UQCRB

ubiquinol-cytochrome c reductase binding protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Mitochondrial complex III deficiency, nuclear type 3

From UniProt:

Mitochondrial complex III deficiency, nuclear 3 (MC3DN3): 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. [MIM:615158]

Cytogenetic Location: 8q22, which is the long (q) arm of chromosome 8 at position 22

Molecular Location: base pairs 96,226,676 to 96,235,634 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8q22, which is the long (q) arm of chromosome 8 at position 22
  • MC3DN3
  • QCR7
  • QP-C
  • QPC
  • UQBC
  • UQBP
  • UQCR6
  • UQPC