UQCRC2 Chromosome 16
Ubiquinol-cytochrome c reductase core protein 2
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What This Gene Does
The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
"Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits|M16 metallopeptidases"
Locus Type
gene with protein product
Location
16p12.2
Ensembl
ENSG00000140740
Associated Conditions (1)
Mitochondrial complex III deficiency nuclear type 5
Key Variants
RS2141926322
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5
Health Risk
RS745553184
Conflicting classifications of pathogenicity
Health Risk
RS778618710
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5
Health Risk
RS2507410551
Likely pathogenic
Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5
Health Risk
RS758472054
Likely pathogenic
Health Risk
RS764992858
Likely pathogenic
Health Risk
RS1898386320
Pathogenic
Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5
Health Risk
RS374661051
Pathogenic/Likely pathogenic
Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2141926322 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5 |
| RS745553184 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778618710 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5 |
| RS2507410551 | Health Risk | Likely pathogenic | Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5 |
| RS758472054 | Health Risk | Likely pathogenic | — |
| RS764992858 | Health Risk | Likely pathogenic | — |
| RS1898386320 | Health Risk | Pathogenic | Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5 |
| RS374661051 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex III deficiency nuclear type 5, Mitochondrial complex III deficiency nuclear type 5 |