RBCC Red Blood Cell Collection

QCR2_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: UQCRC2
Protein names and data: QCR2_HUMAN , Cytochrome b-c1 complex subunit 2, mitochondrial , Complex III subunit 2; Core protein II; Ubiquinol-cytochrome-c reductase complex core protein 2; Flags: Precursor Lenght: 453 a.a.
Mass: 48443 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. The core protein 2 is required for the assembly of the complex.
Disease: ( OMIM: 191329 615160 ) Mitochondrial complex III deficiency, nuclear 5 (MC3DN5) [MIM:615160]: 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; Peripheral membrane protein; Matrix side.

Genetic variants

148 - 148 R -> S (in dbSNP:rs2228473). VAR_029336 2228473
183 - 183 R -> Q (in dbSNP:rs4850). VAR_034582 4850
183 - 183 R -> W (in MC3DN5). VAR_069709
208 - 208 F -> Y (in a colorectal cancer sample; somatic mutation). VAR_036479
254 - 254 R -> H (in dbSNP:rs11863893). VAR_034583 11863893

Database cross-references

UniProt: P22695
Ensembl: ENST00000268379
MIM: 191329
MIM: 615160
neXtProt: NX_P22695
Antibodypedia: P22695 (may not find the protein thus also not any antibody)
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