CYC1 Chromosome 8
Cytochrome c1
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What This Gene Does
This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]
Gene Info
Gene Group
"Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits|Apoptosome"
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000179091
Associated Conditions (1)
Mitochondrial complex III deficiency nuclear type 6
Key Variants
RS758602245
Conflicting classifications of pathogenicity
Health Risk
RS587777041
Pathogenic
Mitochondrial complex III deficiency nuclear type 6, Mitochondrial complex III deficiency nuclear type 6
Health Risk
RS587777042
Pathogenic
Mitochondrial complex III deficiency nuclear type 6, Mitochondrial complex III deficiency nuclear type 6
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS758602245 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587777041 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 6, Mitochondrial complex III deficiency nuclear type 6 |
| RS587777042 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 6, Mitochondrial complex III deficiency nuclear type 6 |