UQCC2 Chromosome 6
Ubiquinol-cytochrome c reductase complex assembly factor 2
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What This Gene Does
This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012]
Gene Info
Gene Group
"Mitochondrial respiratory chain complex assembly factors|Mitochondrial nucleoid associated proteins"
Locus Type
gene with protein product
Location
6p21.31
Ensembl
ENSG00000137288
Associated Conditions (1)
Mitochondrial complex III deficiency nuclear type 7
Key Variants
RS201389126
Conflicting classifications of pathogenicity
Health Risk
RS376993977
Conflicting classifications of pathogenicity
Health Risk
RS756874468
Conflicting classifications of pathogenicity
Health Risk
RS368187806
Pathogenic
Mitochondrial complex III deficiency nuclear type 7, Mitochondrial complex III deficiency nuclear type 7
Health Risk
RS587777410
Pathogenic
Mitochondrial complex III deficiency nuclear type 7, Mitochondrial complex III deficiency nuclear type 7
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201389126 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376993977 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756874468 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368187806 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 7, Mitochondrial complex III deficiency nuclear type 7 |
| RS587777410 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 7, Mitochondrial complex III deficiency nuclear type 7 |