Ubiquinol Cytochrome C Reductase Binding Protein (UQCRB) Antibody – Rabbit Polyclonal

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]

UQCRB: 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. Defects in UQCRB are a cause of mitochondrial complex III deficiency (MT-C3D). 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. Belongs to the UQCRB/QCR7 family.

Protein type: EC 1.10.2.2; Energy Metabolism - oxidative phosphorylation; Mitochondrial; Oxidoreductase

Chromosomal Location of Human Ortholog: 8q22.1

Cellular Component: mitochondrial inner membrane; mitochondrial respiratory chain; mitochondrial respiratory chain complex III

Molecular Function: protein binding; ubiquinol-cytochrome-c reductase activity

Biological Process: aerobic respiration; mitochondrial electron transport, ubiquinol to cytochrome c; oxidative phosphorylation

Disease: Mitochondrial Complex Iii Deficiency, Nuclear Type 3