Full text data of UQCRQ
UQCRQ
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Cytochrome b-c1 complex subunit 8 (Complex III subunit 8; Complex III subunit VIII; Ubiquinol-cytochrome c reductase complex 9.5 kDa protein; Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C)
Cytochrome b-c1 complex subunit 8 (Complex III subunit 8; Complex III subunit VIII; Ubiquinol-cytochrome c reductase complex 9.5 kDa protein; Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C)
UniProt
O14949
ID QCR8_HUMAN Reviewed; 82 AA.
AC O14949; Q5FVE2; Q9BV88; Q9T2V7;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-JAN-2007, sequence version 4.
DT 22-JAN-2014, entry version 120.
DE RecName: Full=Cytochrome b-c1 complex subunit 8;
DE AltName: Full=Complex III subunit 8;
DE AltName: Full=Complex III subunit VIII;
DE AltName: Full=Ubiquinol-cytochrome c reductase complex 9.5 kDa protein;
DE AltName: Full=Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C;
GN Name=UQCRQ;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Brain;
RA Fujiwara T., Kawai A., Shimizu F., Shinomiya K., Hirano H., Okuno S.,
RA Ozaki K., Katagiri T., Takeda S., Kuga Y., Shimada Y., Nagata M.,
RA Takaichi A., Watanabe T., Horie M., Nakamura Y., Takahashi E.,
RA Hirai Y.;
RT "Molecular cloning of a human homologue of bovine low molecular mass
RT ubiquinone-binding protein gene.";
RL Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pituitary, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP PROTEIN SEQUENCE OF 2-16.
RC TISSUE=Heart, and Liver;
RX PubMed=8592474; DOI=10.1016/0076-6879(95)60132-5;
RA Schaegger H., Brandt U., Gencic S., von Jagow G.;
RT "Ubiquinol-cytochrome-c reductase from human and bovine
RT mitochondria.";
RL Methods Enzymol. 260:82-96(1995).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [5]
RP VARIANT MC3DN4 PHE-45.
RX PubMed=18439546; DOI=10.1016/j.ajhg.2008.03.020;
RA Barel O., Shorer Z., Flusser H., Ofir R., Narkis G., Finer G.,
RA Shalev H., Nasasra A., Saada A., Birk O.S.;
RT "Mitochondrial complex III deficiency associated with a homozygous
RT mutation in UQCRQ.";
RL Am. J. Hum. Genet. 82:1211-1216(2008).
CC -!- FUNCTION: This is a component of the ubiquinol-cytochrome c
CC reductase complex (complex III or cytochrome b-c1 complex), which
CC is part of the mitochondrial respiratory chain. This subunit,
CC together with cytochrome b, binds to ubiquinone.
CC -!- SUBUNIT: The bc1 complex contains 11 subunits: 3 respiratory
CC subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core
CC proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight
CC proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9,
CC UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane.
CC -!- DISEASE: Mitochondrial complex III deficiency, nuclear 4 (MC3DN4)
CC [MIM:615159]: A disorder of the mitochondrial respiratory chain
CC resulting in a highly variable phenotype depending on which
CC tissues are affected. Clinical features include mitochondrial
CC encephalopathy, psychomotor retardation, ataxia, severe failure to
CC thrive, liver dysfunction, renal tubulopathy, muscle weakness and
CC exercise intolerance. Note=The disease is caused by mutations
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the UQCRQ/QCR8 family.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; D50369; BAA23321.1; -; mRNA.
DR EMBL; BC001390; AAH01390.1; -; mRNA.
DR EMBL; BC090048; AAH90048.1; -; mRNA.
DR RefSeq; NP_055217.2; NM_014402.4.
DR UniGene; Hs.146602; -.
DR ProteinModelPortal; O14949; -.
DR SMR; O14949; 2-80.
DR IntAct; O14949; 4.
DR MINT; MINT-1417930; -.
DR STRING; 9606.ENSP00000367934; -.
DR PhosphoSite; O14949; -.
DR PaxDb; O14949; -.
DR PRIDE; O14949; -.
DR Ensembl; ENST00000378665; ENSP00000367934; ENSG00000164405.
DR Ensembl; ENST00000378667; ENSP00000367936; ENSG00000164405.
DR Ensembl; ENST00000378670; ENSP00000367939; ENSG00000164405.
DR GeneID; 27089; -.
DR KEGG; hsa:27089; -.
DR UCSC; uc003kya.1; human.
DR CTD; 27089; -.
DR GeneCards; GC05P132231; -.
DR HGNC; HGNC:29594; UQCRQ.
DR HPA; HPA046693; -.
DR MIM; 612080; gene.
DR MIM; 615159; phenotype.
DR neXtProt; NX_O14949; -.
DR Orphanet; 1460; Isolated CoQ-cytochrome C reductase deficiency.
DR PharmGKB; PA142670637; -.
DR eggNOG; NOG253869; -.
DR HOGENOM; HOG000205681; -.
DR HOVERGEN; HBG001468; -.
DR InParanoid; O14949; -.
DR KO; K00418; -.
DR OMA; NVWRRFS; -.
DR OrthoDB; EOG7K3TPV; -.
DR Reactome; REACT_111217; Metabolism.
DR ChiTaRS; UQCRQ; human.
DR GenomeRNAi; 27089; -.
DR NextBio; 49705; -.
DR PRO; PR:O14949; -.
DR Bgee; O14949; -.
DR CleanEx; HS_UQCRQ; -.
DR Genevestigator; O14949; -.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0070469; C:respiratory chain; IEA:UniProtKB-KW.
DR GO; GO:0008121; F:ubiquinol-cytochrome-c reductase activity; IEA:InterPro.
DR GO; GO:0021680; P:cerebellar Purkinje cell layer development; IEA:Ensembl.
DR GO; GO:0021766; P:hippocampus development; IEA:Ensembl.
DR GO; GO:0021854; P:hypothalamus development; IEA:Ensembl.
DR GO; GO:0030901; P:midbrain development; IEA:Ensembl.
DR GO; GO:0021548; P:pons development; IEA:Ensembl.
DR GO; GO:0021860; P:pyramidal neuron development; IEA:Ensembl.
DR GO; GO:0022904; P:respiratory electron transport chain; TAS:Reactome.
DR GO; GO:0044281; P:small molecule metabolic process; TAS:Reactome.
DR GO; GO:0021539; P:subthalamus development; IEA:Ensembl.
DR GO; GO:0021794; P:thalamus development; IEA:Ensembl.
DR Gene3D; 1.20.5.210; -; 1.
DR InterPro; IPR004205; Cyt_bc1_su8.
DR PANTHER; PTHR12119; PTHR12119; 1.
DR Pfam; PF02939; UcrQ; 1.
DR ProDom; PD331499; UcrQ; 1.
DR SUPFAM; SSF81508; SSF81508; 1.
PE 1: Evidence at protein level;
KW Acetylation; Complete proteome; Direct protein sequencing;
KW Disease mutation; Electron transport; Isopeptide bond; Membrane;
KW Mitochondrion; Mitochondrion inner membrane; Reference proteome;
KW Respiratory chain; Transport; Ubl conjugation.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 82 Cytochrome b-c1 complex subunit 8.
FT /FTId=PRO_0000193544.
FT MOD_RES 33 33 N6-acetyllysine; alternate (By
FT similarity).
FT CROSSLNK 33 33 Glycyl lysine isopeptide (Lys-Gly)
FT (interchain with G-Cter in ubiquitin);
FT alternate (By similarity).
FT VARIANT 45 45 S -> F (in MC3DN4; dbSNP:rs11544803).
FT /FTId=VAR_045911.
FT CONFLICT 73 82 KNPAAYENDK -> RIQLPMKMTNEQRIRMTVPCL (in
FT Ref. 1; BAA23321).
SQ SEQUENCE 82 AA; 9906 MW; 5ED13ABDD2990DD2 CRC64;
MGREFGNLTR MRHVISYSLS PFEQRAYPHV FTKGIPNVLR RIRESFFRVV PQFVVFYLIY
TWGTEEFERS KRKNPAAYEN DK
//
ID QCR8_HUMAN Reviewed; 82 AA.
AC O14949; Q5FVE2; Q9BV88; Q9T2V7;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-JAN-2007, sequence version 4.
DT 22-JAN-2014, entry version 120.
DE RecName: Full=Cytochrome b-c1 complex subunit 8;
DE AltName: Full=Complex III subunit 8;
DE AltName: Full=Complex III subunit VIII;
DE AltName: Full=Ubiquinol-cytochrome c reductase complex 9.5 kDa protein;
DE AltName: Full=Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C;
GN Name=UQCRQ;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Brain;
RA Fujiwara T., Kawai A., Shimizu F., Shinomiya K., Hirano H., Okuno S.,
RA Ozaki K., Katagiri T., Takeda S., Kuga Y., Shimada Y., Nagata M.,
RA Takaichi A., Watanabe T., Horie M., Nakamura Y., Takahashi E.,
RA Hirai Y.;
RT "Molecular cloning of a human homologue of bovine low molecular mass
RT ubiquinone-binding protein gene.";
RL Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pituitary, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP PROTEIN SEQUENCE OF 2-16.
RC TISSUE=Heart, and Liver;
RX PubMed=8592474; DOI=10.1016/0076-6879(95)60132-5;
RA Schaegger H., Brandt U., Gencic S., von Jagow G.;
RT "Ubiquinol-cytochrome-c reductase from human and bovine
RT mitochondria.";
RL Methods Enzymol. 260:82-96(1995).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [5]
RP VARIANT MC3DN4 PHE-45.
RX PubMed=18439546; DOI=10.1016/j.ajhg.2008.03.020;
RA Barel O., Shorer Z., Flusser H., Ofir R., Narkis G., Finer G.,
RA Shalev H., Nasasra A., Saada A., Birk O.S.;
RT "Mitochondrial complex III deficiency associated with a homozygous
RT mutation in UQCRQ.";
RL Am. J. Hum. Genet. 82:1211-1216(2008).
CC -!- FUNCTION: This is a component of the ubiquinol-cytochrome c
CC reductase complex (complex III or cytochrome b-c1 complex), which
CC is part of the mitochondrial respiratory chain. This subunit,
CC together with cytochrome b, binds to ubiquinone.
CC -!- SUBUNIT: The bc1 complex contains 11 subunits: 3 respiratory
CC subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core
CC proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight
CC proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9,
CC UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane.
CC -!- DISEASE: Mitochondrial complex III deficiency, nuclear 4 (MC3DN4)
CC [MIM:615159]: A disorder of the mitochondrial respiratory chain
CC resulting in a highly variable phenotype depending on which
CC tissues are affected. Clinical features include mitochondrial
CC encephalopathy, psychomotor retardation, ataxia, severe failure to
CC thrive, liver dysfunction, renal tubulopathy, muscle weakness and
CC exercise intolerance. Note=The disease is caused by mutations
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the UQCRQ/QCR8 family.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; D50369; BAA23321.1; -; mRNA.
DR EMBL; BC001390; AAH01390.1; -; mRNA.
DR EMBL; BC090048; AAH90048.1; -; mRNA.
DR RefSeq; NP_055217.2; NM_014402.4.
DR UniGene; Hs.146602; -.
DR ProteinModelPortal; O14949; -.
DR SMR; O14949; 2-80.
DR IntAct; O14949; 4.
DR MINT; MINT-1417930; -.
DR STRING; 9606.ENSP00000367934; -.
DR PhosphoSite; O14949; -.
DR PaxDb; O14949; -.
DR PRIDE; O14949; -.
DR Ensembl; ENST00000378665; ENSP00000367934; ENSG00000164405.
DR Ensembl; ENST00000378667; ENSP00000367936; ENSG00000164405.
DR Ensembl; ENST00000378670; ENSP00000367939; ENSG00000164405.
DR GeneID; 27089; -.
DR KEGG; hsa:27089; -.
DR UCSC; uc003kya.1; human.
DR CTD; 27089; -.
DR GeneCards; GC05P132231; -.
DR HGNC; HGNC:29594; UQCRQ.
DR HPA; HPA046693; -.
DR MIM; 612080; gene.
DR MIM; 615159; phenotype.
DR neXtProt; NX_O14949; -.
DR Orphanet; 1460; Isolated CoQ-cytochrome C reductase deficiency.
DR PharmGKB; PA142670637; -.
DR eggNOG; NOG253869; -.
DR HOGENOM; HOG000205681; -.
DR HOVERGEN; HBG001468; -.
DR InParanoid; O14949; -.
DR KO; K00418; -.
DR OMA; NVWRRFS; -.
DR OrthoDB; EOG7K3TPV; -.
DR Reactome; REACT_111217; Metabolism.
DR ChiTaRS; UQCRQ; human.
DR GenomeRNAi; 27089; -.
DR NextBio; 49705; -.
DR PRO; PR:O14949; -.
DR Bgee; O14949; -.
DR CleanEx; HS_UQCRQ; -.
DR Genevestigator; O14949; -.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0070469; C:respiratory chain; IEA:UniProtKB-KW.
DR GO; GO:0008121; F:ubiquinol-cytochrome-c reductase activity; IEA:InterPro.
DR GO; GO:0021680; P:cerebellar Purkinje cell layer development; IEA:Ensembl.
DR GO; GO:0021766; P:hippocampus development; IEA:Ensembl.
DR GO; GO:0021854; P:hypothalamus development; IEA:Ensembl.
DR GO; GO:0030901; P:midbrain development; IEA:Ensembl.
DR GO; GO:0021548; P:pons development; IEA:Ensembl.
DR GO; GO:0021860; P:pyramidal neuron development; IEA:Ensembl.
DR GO; GO:0022904; P:respiratory electron transport chain; TAS:Reactome.
DR GO; GO:0044281; P:small molecule metabolic process; TAS:Reactome.
DR GO; GO:0021539; P:subthalamus development; IEA:Ensembl.
DR GO; GO:0021794; P:thalamus development; IEA:Ensembl.
DR Gene3D; 1.20.5.210; -; 1.
DR InterPro; IPR004205; Cyt_bc1_su8.
DR PANTHER; PTHR12119; PTHR12119; 1.
DR Pfam; PF02939; UcrQ; 1.
DR ProDom; PD331499; UcrQ; 1.
DR SUPFAM; SSF81508; SSF81508; 1.
PE 1: Evidence at protein level;
KW Acetylation; Complete proteome; Direct protein sequencing;
KW Disease mutation; Electron transport; Isopeptide bond; Membrane;
KW Mitochondrion; Mitochondrion inner membrane; Reference proteome;
KW Respiratory chain; Transport; Ubl conjugation.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 82 Cytochrome b-c1 complex subunit 8.
FT /FTId=PRO_0000193544.
FT MOD_RES 33 33 N6-acetyllysine; alternate (By
FT similarity).
FT CROSSLNK 33 33 Glycyl lysine isopeptide (Lys-Gly)
FT (interchain with G-Cter in ubiquitin);
FT alternate (By similarity).
FT VARIANT 45 45 S -> F (in MC3DN4; dbSNP:rs11544803).
FT /FTId=VAR_045911.
FT CONFLICT 73 82 KNPAAYENDK -> RIQLPMKMTNEQRIRMTVPCL (in
FT Ref. 1; BAA23321).
SQ SEQUENCE 82 AA; 9906 MW; 5ED13ABDD2990DD2 CRC64;
MGREFGNLTR MRHVISYSLS PFEQRAYPHV FTKGIPNVLR RIRESFFRVV PQFVVFYLIY
TWGTEEFERS KRKNPAAYEN DK
//
MIM
612080
*RECORD*
*FIELD* NO
612080
*FIELD* TI
*612080 UBIQUINOL-CYTOCHROME c REDUCTASE, COMPLEX III SUBUNIT VII, 9.5-KD;
UQCRQ
;;QPC
read more*FIELD* TX
DESCRIPTION
Ubiquinone is an essential component of the mitochondrial electron
transfer system. UQCRQ is a ubiquinone-binding protein localized to the
cytochrome bc1 region of the mitochondrial respiratory chain
(Wakabayashi et al., 1985).
CLONING
Wakabayashi et al. (1985) cloned bovine Uqcrq, which they called QP-C.
The deduced 110-amino acid protein has a relatively hydrophobic and
basic N-terminal region, an aspartic acid-rich middle region, and a
glutamic acid- and lysine-rich C-terminal region.
MAPPING
The International Radiation Hybrid Mapping consortium mapped the UQCRQ
gene to chromosome 5 (TMAP REN72017).
MOLECULAR GENETICS
In affected members of a large Israeli Bedouin kindred with
mitochondrial complex III deficiency nuclear type 4 (MC3DN4; 615159) and
a severe neurologic phenotype, Barel et al. (2008) identified a
homozygous mutation in the UQCRQ gene (612080.0001).
*FIELD* AV
.0001
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
UQCRQ, SER45PHE
In affected members of a large Israeli Bedouin kindred with
mitochondrial complex III deficiency nuclear type 4 (MC3DN4; 615159) and
a severe neurologic phenotype, Barel et al. (2008) identified a
homozygous 208C-T transition in exon 2 of the UQCRQ gene, resulting in a
ser45-to-phe (S45F) substitution. The mutation was not identified in
1,070 control chromosomes.
*FIELD* RF
1. Barel, O.; Shorer, Z.; Flusser, H.; Ofir, R.; Narkis, G.; Finer,
G.; Shalev, H.; Nasasra, A.; Saada, A.; Birk, O. S.: Mitochondrial
complex III deficiency associated with a homozygous mutation in UQCRQ. Am.
J. Hum. Genet. 82: 1211-1216, 2008.
2. Wakabayashi, S.; Takao, T.; Shimonishi, Y.; Kuramitsu, S.; Matsubara,
H.; Wang, T.; Zhang, Z.; King, T. E.: Complete amino acid sequence
of the ubiquinone binding protein (QP-C), a protein similar to the
14,000-Dalton subunit of the yeast ubiquinol-cytochrome c reductase
complex. J. Biol. Chem. 260: 337-343, 1985.
*FIELD* CN
Cassandra L. Kniffin - updated: 5/27/2008
*FIELD* CD
Patricia A. Hartz: 5/23/2008
*FIELD* ED
carol: 04/08/2013
ckniffin: 4/8/2013
wwang: 6/3/2008
ckniffin: 5/27/2008
carol: 5/23/2008
*RECORD*
*FIELD* NO
612080
*FIELD* TI
*612080 UBIQUINOL-CYTOCHROME c REDUCTASE, COMPLEX III SUBUNIT VII, 9.5-KD;
UQCRQ
;;QPC
read more*FIELD* TX
DESCRIPTION
Ubiquinone is an essential component of the mitochondrial electron
transfer system. UQCRQ is a ubiquinone-binding protein localized to the
cytochrome bc1 region of the mitochondrial respiratory chain
(Wakabayashi et al., 1985).
CLONING
Wakabayashi et al. (1985) cloned bovine Uqcrq, which they called QP-C.
The deduced 110-amino acid protein has a relatively hydrophobic and
basic N-terminal region, an aspartic acid-rich middle region, and a
glutamic acid- and lysine-rich C-terminal region.
MAPPING
The International Radiation Hybrid Mapping consortium mapped the UQCRQ
gene to chromosome 5 (TMAP REN72017).
MOLECULAR GENETICS
In affected members of a large Israeli Bedouin kindred with
mitochondrial complex III deficiency nuclear type 4 (MC3DN4; 615159) and
a severe neurologic phenotype, Barel et al. (2008) identified a
homozygous mutation in the UQCRQ gene (612080.0001).
*FIELD* AV
.0001
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
UQCRQ, SER45PHE
In affected members of a large Israeli Bedouin kindred with
mitochondrial complex III deficiency nuclear type 4 (MC3DN4; 615159) and
a severe neurologic phenotype, Barel et al. (2008) identified a
homozygous 208C-T transition in exon 2 of the UQCRQ gene, resulting in a
ser45-to-phe (S45F) substitution. The mutation was not identified in
1,070 control chromosomes.
*FIELD* RF
1. Barel, O.; Shorer, Z.; Flusser, H.; Ofir, R.; Narkis, G.; Finer,
G.; Shalev, H.; Nasasra, A.; Saada, A.; Birk, O. S.: Mitochondrial
complex III deficiency associated with a homozygous mutation in UQCRQ. Am.
J. Hum. Genet. 82: 1211-1216, 2008.
2. Wakabayashi, S.; Takao, T.; Shimonishi, Y.; Kuramitsu, S.; Matsubara,
H.; Wang, T.; Zhang, Z.; King, T. E.: Complete amino acid sequence
of the ubiquinone binding protein (QP-C), a protein similar to the
14,000-Dalton subunit of the yeast ubiquinol-cytochrome c reductase
complex. J. Biol. Chem. 260: 337-343, 1985.
*FIELD* CN
Cassandra L. Kniffin - updated: 5/27/2008
*FIELD* CD
Patricia A. Hartz: 5/23/2008
*FIELD* ED
carol: 04/08/2013
ckniffin: 4/8/2013
wwang: 6/3/2008
ckniffin: 5/27/2008
carol: 5/23/2008
MIM
615159
*RECORD*
*FIELD* NO
615159
*FIELD* TI
#615159 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4
*FIELD* TX
A number sign (#) is used with this entry because mitochondrial complex
read moreIII deficiency nuclear type 4 (MC3DN4) can be caused by homozygous
mutation in the UQCRQ gene (612080) on chromosome 5q31.
For a general phenotypic description and a discussion of genetic
heterogeneity of mitochondrial complex III deficiency, see MC3DN1
(124000).
CLINICAL FEATURES
Barel et al. (2008) reported a large consanguineous Israeli Bedouin
kindred in which 25 individuals had an autosomal recessive syndrome
comprising severe psychomotor retardation and extrapyramidal signs.
Affected individuals seemed normal at birth without any dysmorphic
features, but showed developmental delay in the first few months of
life. Neurologic features included dystonia, athetoid movements, ataxia,
mild axial hypotonia, increased tone, hyperreflexia, and inability to
walk unsupported. Other features included restlessness, marked global
dementia, severe defects in verbal receptive communication, and near
total absence of expressive communication skills, with inability to
express any words at any age. The phenotype was not lethal, with some
affected individuals surviving well into their thirties. Brain MRI in 5
patients showed bilateral symmetric abnormal findings in the basal
ganglia. Serum lactate was mildly elevated and muscle biopsies showed a
reduction in mitochondrial complex III activity.
INHERITANCE
The transmission pattern in the family with mitochondrial complex III
deficiency reported by Barel et al. (2008) was consistent with autosomal
recessive inheritance.
MAPPING
By genomewide linkage analysis of a consanguineous family with
mitochondrial complex III deficiency, Barel et al. (2008) found a
homozygosity locus of approximately 9 cM on chromosome 5q31 that was
further narrowed down to 2.14 cM (lod score of 8.82).
MOLECULAR GENETICS
In affected members of a large Israeli Bedouin kindred with complex III
deficiency, Barel et al. (2008) identified a homozygous mutation in the
UQCRQ gene (612080.0001).
*FIELD* RF
1. Barel, O.; Shorer, Z.; Flusser, H.; Ofir, R.; Narkis, G.; Finer,
G.; Shalev, H.; Nasasra, A.; Saada, A.; Birk, O. S.: Mitochondrial
complex III deficiency associated with a homozygous mutation in UQCRQ. Am.
J. Hum. Genet. 82: 1211-1216, 2008.
*FIELD* CS
INHERITANCE:
Autosomal recessive
MUSCLE, SOFT TISSUE:
Decreased mitochondrial complex III activity seen on muscle biopsy
NEUROLOGIC:
[Central nervous system];
Delayed psychomotor development;
Mental retardation, severe;
Extrapyramidal signs;
Dystonia;
Athetoid movements;
Ataxia;
Hypotonia;
Increased tone;
Hyperreflexia;
Inability to walk independently;
Lack of speech;
Brain MRI shows lesions in the basal ganglia
LABORATORY ABNORMALITIES:
Increased serum lactate;
Decreased mitochondrial complex III activity seen in muscle
MISCELLANEOUS:
Onset in the first month of life;
One large consanguineous Israeli Bedouin kindred has been reported
(last curated April 2013)
MOLECULAR BASIS:
Caused by mutation in the ubiquinol-cytochrome c reductase-protein
complex III subunit VII gene (UQCRQ, 612080.0001)
*FIELD* CD
Cassandra L. Kniffin: 4/4/2013
*FIELD* ED
joanna: 10/03/2013
ckniffin: 4/8/2013
*FIELD* CD
Cassandra L. Kniffin: 4/4/2013
*FIELD* ED
carol: 04/08/2013
ckniffin: 4/8/2013
*RECORD*
*FIELD* NO
615159
*FIELD* TI
#615159 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4
*FIELD* TX
A number sign (#) is used with this entry because mitochondrial complex
read moreIII deficiency nuclear type 4 (MC3DN4) can be caused by homozygous
mutation in the UQCRQ gene (612080) on chromosome 5q31.
For a general phenotypic description and a discussion of genetic
heterogeneity of mitochondrial complex III deficiency, see MC3DN1
(124000).
CLINICAL FEATURES
Barel et al. (2008) reported a large consanguineous Israeli Bedouin
kindred in which 25 individuals had an autosomal recessive syndrome
comprising severe psychomotor retardation and extrapyramidal signs.
Affected individuals seemed normal at birth without any dysmorphic
features, but showed developmental delay in the first few months of
life. Neurologic features included dystonia, athetoid movements, ataxia,
mild axial hypotonia, increased tone, hyperreflexia, and inability to
walk unsupported. Other features included restlessness, marked global
dementia, severe defects in verbal receptive communication, and near
total absence of expressive communication skills, with inability to
express any words at any age. The phenotype was not lethal, with some
affected individuals surviving well into their thirties. Brain MRI in 5
patients showed bilateral symmetric abnormal findings in the basal
ganglia. Serum lactate was mildly elevated and muscle biopsies showed a
reduction in mitochondrial complex III activity.
INHERITANCE
The transmission pattern in the family with mitochondrial complex III
deficiency reported by Barel et al. (2008) was consistent with autosomal
recessive inheritance.
MAPPING
By genomewide linkage analysis of a consanguineous family with
mitochondrial complex III deficiency, Barel et al. (2008) found a
homozygosity locus of approximately 9 cM on chromosome 5q31 that was
further narrowed down to 2.14 cM (lod score of 8.82).
MOLECULAR GENETICS
In affected members of a large Israeli Bedouin kindred with complex III
deficiency, Barel et al. (2008) identified a homozygous mutation in the
UQCRQ gene (612080.0001).
*FIELD* RF
1. Barel, O.; Shorer, Z.; Flusser, H.; Ofir, R.; Narkis, G.; Finer,
G.; Shalev, H.; Nasasra, A.; Saada, A.; Birk, O. S.: Mitochondrial
complex III deficiency associated with a homozygous mutation in UQCRQ. Am.
J. Hum. Genet. 82: 1211-1216, 2008.
*FIELD* CS
INHERITANCE:
Autosomal recessive
MUSCLE, SOFT TISSUE:
Decreased mitochondrial complex III activity seen on muscle biopsy
NEUROLOGIC:
[Central nervous system];
Delayed psychomotor development;
Mental retardation, severe;
Extrapyramidal signs;
Dystonia;
Athetoid movements;
Ataxia;
Hypotonia;
Increased tone;
Hyperreflexia;
Inability to walk independently;
Lack of speech;
Brain MRI shows lesions in the basal ganglia
LABORATORY ABNORMALITIES:
Increased serum lactate;
Decreased mitochondrial complex III activity seen in muscle
MISCELLANEOUS:
Onset in the first month of life;
One large consanguineous Israeli Bedouin kindred has been reported
(last curated April 2013)
MOLECULAR BASIS:
Caused by mutation in the ubiquinol-cytochrome c reductase-protein
complex III subunit VII gene (UQCRQ, 612080.0001)
*FIELD* CD
Cassandra L. Kniffin: 4/4/2013
*FIELD* ED
joanna: 10/03/2013
ckniffin: 4/8/2013
*FIELD* CD
Cassandra L. Kniffin: 4/4/2013
*FIELD* ED
carol: 04/08/2013
ckniffin: 4/8/2013