UQCRC1 Chromosome 3
Ubiquinol-cytochrome c reductase core protein 1
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What This Gene Does
Enables ubiquitin protein ligase binding activity. Predicted to be involved in oxidative phosphorylation. Predicted to act upstream of or within mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrial inner membrane. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
"Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits|M16 metallopeptidases"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000010256
Associated Conditions (2)
Hypertrophic cardiomyopathy
Parkinsonism with polyneuropathy
Key Variants
RS201911056
Likely pathogenic
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS2531442889
Likely pathogenic
Parkinsonism with polyneuropathy, Parkinsonism with polyneuropathy
Health Risk
RS2107843274
Pathogenic
Parkinsonism with polyneuropathy, Parkinsonism with polyneuropathy
Health Risk
RS780978963
Pathogenic
Parkinsonism with polyneuropathy, Parkinsonism with polyneuropathy
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201911056 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2531442889 | Health Risk | Likely pathogenic | Parkinsonism with polyneuropathy, Parkinsonism with polyneuropathy |
| RS2107843274 | Health Risk | Pathogenic | Parkinsonism with polyneuropathy, Parkinsonism with polyneuropathy |
| RS780978963 | Health Risk | Pathogenic | Parkinsonism with polyneuropathy, Parkinsonism with polyneuropathy |