UQCRB Chromosome 8
Ubiquinol-cytochrome c reductase binding protein
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What This Gene Does
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]
Gene Info
Gene Group
Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits
Locus Type
gene with protein product
Location
8q22.1
Ensembl
ENSG00000156467
Associated Conditions (2)
UQCRB-related disorder
Mitochondrial complex III deficiency nuclear type 3
Key Variants
RS139283183
Conflicting classifications of pathogenicity
UQCRB-related disorder, Mitochondrial complex III deficiency nuclear type 3, UQCRB-related disorder
Health Risk
RS145828292
Conflicting classifications of pathogenicity
Health Risk
RS863224258
Conflicting classifications of pathogenicity
Health Risk
RS886043294
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 3, Mitochondrial complex III deficiency nuclear type 3
Health Risk
RS863224257
Likely pathogenic
Health Risk
RS863224259
Pathogenic
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139283183 | Health Risk | Conflicting classifications of pathogenicity | UQCRB-related disorder, Mitochondrial complex III deficiency nuclear type 3, UQCRB-related disorder |
| RS145828292 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS863224258 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886043294 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 3, Mitochondrial complex III deficiency nuclear type 3 |
| RS863224257 | Health Risk | Likely pathogenic | — |
| RS863224259 | Health Risk | Pathogenic | — |