RBCC Red Blood Cell Collection

QCR7_HUMAN

Source: BSc_CH
Marked as 'Membrane associated protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: UQCRB , UQBP
Protein names and data: QCR7_HUMAN , Cytochrome b-c1 complex subunit 7 , Complex III subunit 7; Complex III subunit VII; QP-C; Ubiquinol-cytochrome c reductase complex 14 kDa protein Lenght: 111 a.a.
Mass: 13530 Da
fasta formatted sequence
Function: This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This component is involved in redox-linked proton pumping.
Disease: ( OMIM: 191330 615158 ) Mitochondrial complex III deficiency, nuclear 3 (MC3DN3) [MIM:615158]: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Mitochondrion inner membrane.

Genetic variants

30 - 30 L -> P (in dbSNP:rs35895613). VAR_052443 35895613

Database cross-references

UniProt: P14927
Ensembl: ENST00000287022
Ensembl: ENST00000518406
MIM: 191330
MIM: 615158
neXtProt: NX_P14927
Antibodypedia: P14927 (may not find the protein thus also not any antibody)
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