UQCC3 Chromosome 11
Ubiquinol-cytochrome c reductase complex assembly factor 3
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What This Gene Does
Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
11q12.3
Ensembl
ENSG00000204922
Associated Conditions (1)
Mitochondrial complex III deficiency nuclear type 9
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS606231426 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 9, Mitochondrial complex III deficiency nuclear type 9 |