RBCC Red Blood Cell Collection

QCR8_HUMAN

Source: BSc_CH
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: UQCRQ
Protein names and data: QCR8_HUMAN , 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 Lenght: 82 a.a.
Mass: 9906 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 subunit, together with cytochrome b, binds to ubiquinone.
Disease: ( OMIM: 612080 615159 ) Mitochondrial complex III deficiency, nuclear 4 (MC3DN4) [MIM:615159]: 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

45 - 45 S -> F (in MC3DN4; dbSNP:rs11544803). VAR_045911 11544803

Database cross-references

UniProt: O14949
Ensembl: ENST00000378665
Ensembl: ENST00000378667
Ensembl: ENST00000378670
MIM: 612080
MIM: 615159
neXtProt: NX_O14949
Antibodypedia: O14949 (may not find the protein thus also not any antibody)
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