Full text data of RPIA
RPIA
(RPI)
[Confidence: high (present in two of the MS resources)]
Ribose-5-phosphate isomerase; 5.3.1.6 (Phosphoriboisomerase)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Ribose-5-phosphate isomerase; 5.3.1.6 (Phosphoriboisomerase)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
hRBCD
IPI00026513
IPI00026513 Similar to Ribose 5-phosphate isomerase D-ribose 5-phosphate = D-ribulose 5-phosphate soluble n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a cytoplasmic n/a found at its expected molecular weight found at molecular weight
IPI00026513 Similar to Ribose 5-phosphate isomerase D-ribose 5-phosphate = D-ribulose 5-phosphate soluble n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a cytoplasmic n/a found at its expected molecular weight found at molecular weight
UniProt
P49247
ID RPIA_HUMAN Reviewed; 311 AA.
AC P49247; Q541P9; Q96BJ6;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
read moreDT 24-JUL-2007, sequence version 3.
DT 22-JAN-2014, entry version 122.
DE RecName: Full=Ribose-5-phosphate isomerase;
DE EC=5.3.1.6;
DE AltName: Full=Phosphoriboisomerase;
GN Name=RPIA; Synonyms=RPI;
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].
RA Guo J.H., Yu L.;
RT "Cloning and characterization of human ribose 5-phosphate isomerase
RT (RPI) gene.";
RL Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
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 NUCLEOTIDE SEQUENCE [MRNA] OF 186-311.
RC TISSUE=B-cell;
RX PubMed=7758956; DOI=10.1016/0378-1119(94)00901-4;
RA Apel T.W., Scherer A., Adachi T., Auch D., Ayane M., Reth M.;
RT "The ribose 5-phosphate isomerase-encoding gene is located immediately
RT downstream from that encoding murine immunoglobulin kappa.";
RL Gene 156:191-197(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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [6]
RP VARIANT RPID VAL-135.
RX PubMed=14988808; DOI=10.1086/383204;
RA Huck J.H.J., Verhoeven N.M., Struys E.A., Salomons G.S., Jakobs C.,
RA van der Knaap M.S.;
RT "Ribose-5-phosphate isomerase deficiency: new inborn error in the
RT pentose phosphate pathway associated with a slowly progressive
RT leukoencephalopathy.";
RL Am. J. Hum. Genet. 74:745-751(2004).
CC -!- CATALYTIC ACTIVITY: D-ribose 5-phosphate = D-ribulose 5-phosphate.
CC -!- PATHWAY: Carbohydrate degradation; pentose phosphate pathway; D-
CC ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative
CC stage): step 1/1.
CC -!- DISEASE: Ribose 5-phosphate isomerase deficiency (RPID)
CC [MIM:608611]: A patient has been described with a deficiency of
CC ribose 5-phosphate isomerase who presented with
CC leukoencephalopathy and peripheral neuropathy. Proton magnetic
CC resonance spectroscopy of the brain revealed a highly elevated
CC level of the polyols ribitol and D-arabitol, which were
CC subsequently also found in high concentrations in body fluids.
CC Deficient activity of RPIA, one of the pentose phosphate pathway
CC enzymes, has been demonstrated in fibroblasts. Note=The disease is
CC caused by mutations affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the ribose 5-phosphate isomerase family.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK95569.1; Type=Frameshift; Positions=24;
CC -!- WEB RESOURCE: Name=GeneReviews;
CC URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPIA";
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; AY050633; AAK95569.1; ALT_FRAME; mRNA.
DR EMBL; BC015529; AAH15529.2; -; mRNA.
DR EMBL; L35035; -; NOT_ANNOTATED_CDS; mRNA.
DR RefSeq; NP_653164.2; NM_144563.2.
DR UniGene; Hs.469264; -.
DR ProteinModelPortal; P49247; -.
DR SMR; P49247; 79-308.
DR IntAct; P49247; 8.
DR MINT; MINT-1440254; -.
DR STRING; 9606.ENSP00000283646; -.
DR PhosphoSite; P49247; -.
DR DMDM; 156637353; -.
DR PaxDb; P49247; -.
DR PRIDE; P49247; -.
DR DNASU; 22934; -.
DR Ensembl; ENST00000283646; ENSP00000283646; ENSG00000153574.
DR GeneID; 22934; -.
DR KEGG; hsa:22934; -.
DR UCSC; uc002ste.3; human.
DR CTD; 22934; -.
DR GeneCards; GC02P088991; -.
DR H-InvDB; HIX0002249; -.
DR HGNC; HGNC:10297; RPIA.
DR HPA; HPA042620; -.
DR MIM; 180430; gene.
DR MIM; 608611; phenotype.
DR neXtProt; NX_P49247; -.
DR PharmGKB; PA34659; -.
DR eggNOG; COG0120; -.
DR HOGENOM; HOG000276369; -.
DR HOVERGEN; HBG017746; -.
DR InParanoid; P49247; -.
DR KO; K01807; -.
DR OMA; GACHVQE; -.
DR OrthoDB; EOG7V1FS4; -.
DR Reactome; REACT_111217; Metabolism.
DR UniPathway; UPA00115; UER00412.
DR NextBio; 43675; -.
DR PRO; PR:P49247; -.
DR ArrayExpress; P49247; -.
DR Bgee; P49247; -.
DR CleanEx; HS_RPIA; -.
DR Genevestigator; P49247; -.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IEA:Ensembl.
DR GO; GO:0048029; F:monosaccharide binding; IEA:Ensembl.
DR GO; GO:0004751; F:ribose-5-phosphate isomerase activity; NAS:UniProtKB.
DR GO; GO:0009052; P:pentose-phosphate shunt, non-oxidative branch; NAS:UniProtKB.
DR GO; GO:0019693; P:ribose phosphate metabolic process; IEA:Ensembl.
DR InterPro; IPR004788; Ribose5P_isomerase_typA.
DR InterPro; IPR020672; Ribose5P_isomerase_typA_subgr.
DR PANTHER; PTHR11934; PTHR11934; 1.
DR Pfam; PF06026; Rib_5-P_isom_A; 1.
DR TIGRFAMs; TIGR00021; rpiA; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Disease mutation; Isomerase; Reference proteome.
FT CHAIN 1 311 Ribose-5-phosphate isomerase.
FT /FTId=PRO_0000158521.
FT VARIANT 135 135 A -> V (in RPID).
FT /FTId=VAR_019122.
FT CONFLICT 207 207 D -> V (in Ref. 3; L35035).
FT CONFLICT 239 239 L -> V (in Ref. 3; L35035).
SQ SEQUENCE 311 AA; 33269 MW; 4ED587A40F10223D CRC64;
MQRPGPFSTL YGRVLAPLPG RAGGAASGGG GNSWDLPGSH VRLPGRAQSG TRGGAGNTST
SCGDSNSICP APSTMSKAEE AKKLAGRAAV ENHVRNNQVL GIGSGSTIVH AVQRIAERVK
QENLNLVCIP TSFQARQLIL QYGLTLSDLD RHPEIDLAID GADEVDADLN LIKGGGGCLT
QEKIVAGYAS RFIVIADFRK DSKNLGDQWH KGIPIEVIPM AYVPVSRAVS QKFGGVVELR
MAVNKAGPVV TDNGNFILDW KFDRVHKWSE VNTAIKMIPG VVDTGLFINM AERVYFGMQD
GSVNMREKPF C
//
ID RPIA_HUMAN Reviewed; 311 AA.
AC P49247; Q541P9; Q96BJ6;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
read moreDT 24-JUL-2007, sequence version 3.
DT 22-JAN-2014, entry version 122.
DE RecName: Full=Ribose-5-phosphate isomerase;
DE EC=5.3.1.6;
DE AltName: Full=Phosphoriboisomerase;
GN Name=RPIA; Synonyms=RPI;
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].
RA Guo J.H., Yu L.;
RT "Cloning and characterization of human ribose 5-phosphate isomerase
RT (RPI) gene.";
RL Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
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 NUCLEOTIDE SEQUENCE [MRNA] OF 186-311.
RC TISSUE=B-cell;
RX PubMed=7758956; DOI=10.1016/0378-1119(94)00901-4;
RA Apel T.W., Scherer A., Adachi T., Auch D., Ayane M., Reth M.;
RT "The ribose 5-phosphate isomerase-encoding gene is located immediately
RT downstream from that encoding murine immunoglobulin kappa.";
RL Gene 156:191-197(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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [6]
RP VARIANT RPID VAL-135.
RX PubMed=14988808; DOI=10.1086/383204;
RA Huck J.H.J., Verhoeven N.M., Struys E.A., Salomons G.S., Jakobs C.,
RA van der Knaap M.S.;
RT "Ribose-5-phosphate isomerase deficiency: new inborn error in the
RT pentose phosphate pathway associated with a slowly progressive
RT leukoencephalopathy.";
RL Am. J. Hum. Genet. 74:745-751(2004).
CC -!- CATALYTIC ACTIVITY: D-ribose 5-phosphate = D-ribulose 5-phosphate.
CC -!- PATHWAY: Carbohydrate degradation; pentose phosphate pathway; D-
CC ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative
CC stage): step 1/1.
CC -!- DISEASE: Ribose 5-phosphate isomerase deficiency (RPID)
CC [MIM:608611]: A patient has been described with a deficiency of
CC ribose 5-phosphate isomerase who presented with
CC leukoencephalopathy and peripheral neuropathy. Proton magnetic
CC resonance spectroscopy of the brain revealed a highly elevated
CC level of the polyols ribitol and D-arabitol, which were
CC subsequently also found in high concentrations in body fluids.
CC Deficient activity of RPIA, one of the pentose phosphate pathway
CC enzymes, has been demonstrated in fibroblasts. Note=The disease is
CC caused by mutations affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the ribose 5-phosphate isomerase family.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK95569.1; Type=Frameshift; Positions=24;
CC -!- WEB RESOURCE: Name=GeneReviews;
CC URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPIA";
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; AY050633; AAK95569.1; ALT_FRAME; mRNA.
DR EMBL; BC015529; AAH15529.2; -; mRNA.
DR EMBL; L35035; -; NOT_ANNOTATED_CDS; mRNA.
DR RefSeq; NP_653164.2; NM_144563.2.
DR UniGene; Hs.469264; -.
DR ProteinModelPortal; P49247; -.
DR SMR; P49247; 79-308.
DR IntAct; P49247; 8.
DR MINT; MINT-1440254; -.
DR STRING; 9606.ENSP00000283646; -.
DR PhosphoSite; P49247; -.
DR DMDM; 156637353; -.
DR PaxDb; P49247; -.
DR PRIDE; P49247; -.
DR DNASU; 22934; -.
DR Ensembl; ENST00000283646; ENSP00000283646; ENSG00000153574.
DR GeneID; 22934; -.
DR KEGG; hsa:22934; -.
DR UCSC; uc002ste.3; human.
DR CTD; 22934; -.
DR GeneCards; GC02P088991; -.
DR H-InvDB; HIX0002249; -.
DR HGNC; HGNC:10297; RPIA.
DR HPA; HPA042620; -.
DR MIM; 180430; gene.
DR MIM; 608611; phenotype.
DR neXtProt; NX_P49247; -.
DR PharmGKB; PA34659; -.
DR eggNOG; COG0120; -.
DR HOGENOM; HOG000276369; -.
DR HOVERGEN; HBG017746; -.
DR InParanoid; P49247; -.
DR KO; K01807; -.
DR OMA; GACHVQE; -.
DR OrthoDB; EOG7V1FS4; -.
DR Reactome; REACT_111217; Metabolism.
DR UniPathway; UPA00115; UER00412.
DR NextBio; 43675; -.
DR PRO; PR:P49247; -.
DR ArrayExpress; P49247; -.
DR Bgee; P49247; -.
DR CleanEx; HS_RPIA; -.
DR Genevestigator; P49247; -.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IEA:Ensembl.
DR GO; GO:0048029; F:monosaccharide binding; IEA:Ensembl.
DR GO; GO:0004751; F:ribose-5-phosphate isomerase activity; NAS:UniProtKB.
DR GO; GO:0009052; P:pentose-phosphate shunt, non-oxidative branch; NAS:UniProtKB.
DR GO; GO:0019693; P:ribose phosphate metabolic process; IEA:Ensembl.
DR InterPro; IPR004788; Ribose5P_isomerase_typA.
DR InterPro; IPR020672; Ribose5P_isomerase_typA_subgr.
DR PANTHER; PTHR11934; PTHR11934; 1.
DR Pfam; PF06026; Rib_5-P_isom_A; 1.
DR TIGRFAMs; TIGR00021; rpiA; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Disease mutation; Isomerase; Reference proteome.
FT CHAIN 1 311 Ribose-5-phosphate isomerase.
FT /FTId=PRO_0000158521.
FT VARIANT 135 135 A -> V (in RPID).
FT /FTId=VAR_019122.
FT CONFLICT 207 207 D -> V (in Ref. 3; L35035).
FT CONFLICT 239 239 L -> V (in Ref. 3; L35035).
SQ SEQUENCE 311 AA; 33269 MW; 4ED587A40F10223D CRC64;
MQRPGPFSTL YGRVLAPLPG RAGGAASGGG GNSWDLPGSH VRLPGRAQSG TRGGAGNTST
SCGDSNSICP APSTMSKAEE AKKLAGRAAV ENHVRNNQVL GIGSGSTIVH AVQRIAERVK
QENLNLVCIP TSFQARQLIL QYGLTLSDLD RHPEIDLAID GADEVDADLN LIKGGGGCLT
QEKIVAGYAS RFIVIADFRK DSKNLGDQWH KGIPIEVIPM AYVPVSRAVS QKFGGVVELR
MAVNKAGPVV TDNGNFILDW KFDRVHKWSE VNTAIKMIPG VVDTGLFINM AERVYFGMQD
GSVNMREKPF C
//
MIM
180430
*RECORD*
*FIELD* NO
180430
*FIELD* TI
*180430 RIBOSE 5-PHOSPHATE ISOMERASE A; RPIA
;;RPI
*FIELD* TX
DESCRIPTION
Spencer and Hopkinson (1980) found that ribose 5-phosphate isomerase (EC
read more5.3.1.6), an enzyme in the pentose-phosphate pathway, appears to be
determined by a single structural locus and is probably a dimer. They
detected no allelic variation in over 200 unrelated persons.
MAPPING
The International Radiation Hybrid Mapping Consortium mapped the RPIA
gene to chromosome 2 (TMAP RH98874).
MOLECULAR GENETICS
Huck et al. (2004) described a patient with a deficiency of ribose
5-phosphate isomerase (608611) who presented with leukoencephalopathy
and peripheral neuropathy. Sequence analysis of the RPIA gene
demonstrated a frameshift (180430.0001) and a missense (180430.0002)
mutation.
*FIELD* AV
.0001
RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
RPIA, 1-BP DEL, 540G
In a patient with RPI deficiency (608611) who presented with
leukoencephalopathy and peripheral neuropathy, Huck et al. (2004)
identified compound heterozygosity for 2 mutations in the RPI gene: one,
inherited from the mother, was a 1-bp deletion (540delG), resulting in a
frameshift at codon 181 with a premature stop at codon 17, a protein
truncation of 196 amino acids; the other mutation, presumably inherited
from the father, was a 182C-T transition, resulting in an ala61-to-val
substitution (A61V; 180430.0002).
.0002
RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
RPI, ALA61VAL
See 180430.0001 and Huck et al. (2004).
*FIELD* RF
1. Huck, J. H. J.; Verhoeven, N. M.; Struys, E. A.; Salomons, G. S.;
Jakobs, C.; van der Knaap, M. S.: Ribose-5-phosphate isomerase deficiency:
new inborn error in the pentose phosphate pathway associated with
a slowly progressive leukoencephalopathy. Am. J. Hum. Genet. 74:
745-751, 2004.
2. Spencer, N.; Hopkinson, D. A.: Biochemical genetics of the pentose
phosphate cycle: human ribose 5-phosphate isomerase (RPI) and ribulose
5-phosphate 3-epimerase (RPE). Ann. Hum. Genet. 43: 335-342, 1980.
*FIELD* CN
Victor A. McKusick - updated: 4/8/2004
*FIELD* CD
Victor A. McKusick: 6/2/1986
*FIELD* ED
carol: 08/17/2012
carol: 4/26/2004
tkritzer: 4/26/2004
tkritzer: 4/16/2004
terry: 4/8/2004
mgross: 9/30/1999
supermim: 3/16/1992
supermim: 3/20/1990
ddp: 10/27/1989
marie: 3/25/1988
reenie: 6/2/1986
*RECORD*
*FIELD* NO
180430
*FIELD* TI
*180430 RIBOSE 5-PHOSPHATE ISOMERASE A; RPIA
;;RPI
*FIELD* TX
DESCRIPTION
Spencer and Hopkinson (1980) found that ribose 5-phosphate isomerase (EC
read more5.3.1.6), an enzyme in the pentose-phosphate pathway, appears to be
determined by a single structural locus and is probably a dimer. They
detected no allelic variation in over 200 unrelated persons.
MAPPING
The International Radiation Hybrid Mapping Consortium mapped the RPIA
gene to chromosome 2 (TMAP RH98874).
MOLECULAR GENETICS
Huck et al. (2004) described a patient with a deficiency of ribose
5-phosphate isomerase (608611) who presented with leukoencephalopathy
and peripheral neuropathy. Sequence analysis of the RPIA gene
demonstrated a frameshift (180430.0001) and a missense (180430.0002)
mutation.
*FIELD* AV
.0001
RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
RPIA, 1-BP DEL, 540G
In a patient with RPI deficiency (608611) who presented with
leukoencephalopathy and peripheral neuropathy, Huck et al. (2004)
identified compound heterozygosity for 2 mutations in the RPI gene: one,
inherited from the mother, was a 1-bp deletion (540delG), resulting in a
frameshift at codon 181 with a premature stop at codon 17, a protein
truncation of 196 amino acids; the other mutation, presumably inherited
from the father, was a 182C-T transition, resulting in an ala61-to-val
substitution (A61V; 180430.0002).
.0002
RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
RPI, ALA61VAL
See 180430.0001 and Huck et al. (2004).
*FIELD* RF
1. Huck, J. H. J.; Verhoeven, N. M.; Struys, E. A.; Salomons, G. S.;
Jakobs, C.; van der Knaap, M. S.: Ribose-5-phosphate isomerase deficiency:
new inborn error in the pentose phosphate pathway associated with
a slowly progressive leukoencephalopathy. Am. J. Hum. Genet. 74:
745-751, 2004.
2. Spencer, N.; Hopkinson, D. A.: Biochemical genetics of the pentose
phosphate cycle: human ribose 5-phosphate isomerase (RPI) and ribulose
5-phosphate 3-epimerase (RPE). Ann. Hum. Genet. 43: 335-342, 1980.
*FIELD* CN
Victor A. McKusick - updated: 4/8/2004
*FIELD* CD
Victor A. McKusick: 6/2/1986
*FIELD* ED
carol: 08/17/2012
carol: 4/26/2004
tkritzer: 4/26/2004
tkritzer: 4/16/2004
terry: 4/8/2004
mgross: 9/30/1999
supermim: 3/16/1992
supermim: 3/20/1990
ddp: 10/27/1989
marie: 3/25/1988
reenie: 6/2/1986
MIM
608611
*RECORD*
*FIELD* NO
608611
*FIELD* TI
#608611 RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
*FIELD* TX
A number sign (#) is used with this entry because ribose 5-phosphate
read moreisomerase deficiency can caused by compound heterozygous mutation in the
RPIA gene (180430) on chromosome 2p11.
CLINICAL FEATURES
Huck et al. (2004) described a patient with a deficiency of ribose
5-phosphate isomerase who presented with leukoencephalopathy and
peripheral neuropathy. Huck et al. (2004) noted that children with
neurologic deficits of central origin often demonstrate white matter
abnormalities on MRI. Often a specific diagnosis is not possible despite
extensive investigations. Their patient had psychomotor retardation from
early in life and developed epilepsy at age 4 years. After age 7 years,
a slow neurologic regression occurred with prominent cerebellar ataxia,
some spasticity, optic atrophy, and a mild sensorimotor neuropathy.
Neither organomegaly nor dysfunction of the internal organs was present.
Extensive abnormalities of the cerebral white matter were demonstrated
by MRI of the brain at ages 11 and 14 years. Proton magnetic resonance
spectroscopy of the brain showed highly elevated abnormal peaks that
were identified as representing pentitols ribitol and D-arabitol.
Deficient activity of RPI, one of the pentose phosphate pathway enzymes,
was demonstrated in fibroblasts. Deficiency of transaldolase (602063),
another enzyme in the pentose phosphate pathway, had previously been
demonstrated in a patient with liver cirrhosis and abnormal polyol
levels in body fluids. RPI deficiency represented the second instance of
an inborn error in the reversible phase of the pentose phosphate
pathway, confirming that defects in pentose and polyol metabolism
constitute a group of inborn metabolic disorders.
MOLECULAR GENETICS
By sequence analysis of the RPI gene in a patient with deficiency of
ribose 5-phosphate isomerase, Huck et al. (2004) demonstrated compound
heterozygosity for a frameshift (180430.0001) and a missense
(180430.0002) mutation.
*FIELD* RF
1. Huck, J. H. J.; Verhoeven, N. M.; Struys, E. A.; Salomons, G. S.;
Jakobs, C.; van der Knaap, M. S.: Ribose-5-phosphate isomerase deficiency:
new inborn error in the pentose phosphate pathway associated with
a slowly progressive leukoencephalopathy. Am. J. Hum. Genet. 74:
745-751, 2004.
*FIELD* CS
INHERITANCE:
Autosomal recessive
HEAD AND NECK:
[Eyes];
Optic atrophy
NEUROLOGIC:
[Central nervous system];
Psychomotor retardation;
Seizures;
Cerebellar ataxia;
Spasticity;
Mild sensorimotor neuropathy;
Leukoencephalopathy
LABORATORY ABNORMALITIES:
Elevated urinary and CSF ribitol and D-arabitol;
Deficient ribose-S-phosphate isomerase (RPI) in fibroblasts
MOLECULAR BASIS:
Caused by mutation in ribose 5-phosphate isomerase A (RPIA, 180430.0001)
*FIELD* CD
Kelly A. Przylepa: 9/13/2004
*FIELD* ED
joanna: 09/13/2004
joanna: 9/13/2004
*FIELD* CD
Victor A. McKusick: 4/26/2004
*FIELD* ED
carol: 08/17/2012
joanna: 1/25/2012
tkritzer: 4/26/2004
*RECORD*
*FIELD* NO
608611
*FIELD* TI
#608611 RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
*FIELD* TX
A number sign (#) is used with this entry because ribose 5-phosphate
read moreisomerase deficiency can caused by compound heterozygous mutation in the
RPIA gene (180430) on chromosome 2p11.
CLINICAL FEATURES
Huck et al. (2004) described a patient with a deficiency of ribose
5-phosphate isomerase who presented with leukoencephalopathy and
peripheral neuropathy. Huck et al. (2004) noted that children with
neurologic deficits of central origin often demonstrate white matter
abnormalities on MRI. Often a specific diagnosis is not possible despite
extensive investigations. Their patient had psychomotor retardation from
early in life and developed epilepsy at age 4 years. After age 7 years,
a slow neurologic regression occurred with prominent cerebellar ataxia,
some spasticity, optic atrophy, and a mild sensorimotor neuropathy.
Neither organomegaly nor dysfunction of the internal organs was present.
Extensive abnormalities of the cerebral white matter were demonstrated
by MRI of the brain at ages 11 and 14 years. Proton magnetic resonance
spectroscopy of the brain showed highly elevated abnormal peaks that
were identified as representing pentitols ribitol and D-arabitol.
Deficient activity of RPI, one of the pentose phosphate pathway enzymes,
was demonstrated in fibroblasts. Deficiency of transaldolase (602063),
another enzyme in the pentose phosphate pathway, had previously been
demonstrated in a patient with liver cirrhosis and abnormal polyol
levels in body fluids. RPI deficiency represented the second instance of
an inborn error in the reversible phase of the pentose phosphate
pathway, confirming that defects in pentose and polyol metabolism
constitute a group of inborn metabolic disorders.
MOLECULAR GENETICS
By sequence analysis of the RPI gene in a patient with deficiency of
ribose 5-phosphate isomerase, Huck et al. (2004) demonstrated compound
heterozygosity for a frameshift (180430.0001) and a missense
(180430.0002) mutation.
*FIELD* RF
1. Huck, J. H. J.; Verhoeven, N. M.; Struys, E. A.; Salomons, G. S.;
Jakobs, C.; van der Knaap, M. S.: Ribose-5-phosphate isomerase deficiency:
new inborn error in the pentose phosphate pathway associated with
a slowly progressive leukoencephalopathy. Am. J. Hum. Genet. 74:
745-751, 2004.
*FIELD* CS
INHERITANCE:
Autosomal recessive
HEAD AND NECK:
[Eyes];
Optic atrophy
NEUROLOGIC:
[Central nervous system];
Psychomotor retardation;
Seizures;
Cerebellar ataxia;
Spasticity;
Mild sensorimotor neuropathy;
Leukoencephalopathy
LABORATORY ABNORMALITIES:
Elevated urinary and CSF ribitol and D-arabitol;
Deficient ribose-S-phosphate isomerase (RPI) in fibroblasts
MOLECULAR BASIS:
Caused by mutation in ribose 5-phosphate isomerase A (RPIA, 180430.0001)
*FIELD* CD
Kelly A. Przylepa: 9/13/2004
*FIELD* ED
joanna: 09/13/2004
joanna: 9/13/2004
*FIELD* CD
Victor A. McKusick: 4/26/2004
*FIELD* ED
carol: 08/17/2012
joanna: 1/25/2012
tkritzer: 4/26/2004