MPC1 Chromosome 6
Mitochondrial pyruvate carrier 1
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What This Gene Does
The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
Solute carrier family 54, mitochondrial pyruvate carriers
Locus Type
gene with protein product
Location
6q27
Ensembl
ENSG00000060762
Associated Conditions (1)
Mitochondrial pyruvate carrier deficiency
Key Variants
RS1554264977
Likely pathogenic
Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency
Health Risk
RS1779135449
Likely pathogenic
Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency
Health Risk
RS2114943862
Likely pathogenic
Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency
Health Risk
RS867958037
Likely pathogenic
Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency
Health Risk
RS387907237
Pathogenic
Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency
Health Risk
RS387907238
Pathogenic
Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554264977 | Health Risk | Likely pathogenic | Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency |
| RS1779135449 | Health Risk | Likely pathogenic | Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency |
| RS2114943862 | Health Risk | Likely pathogenic | Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency |
| RS867958037 | Health Risk | Likely pathogenic | Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency |
| RS387907237 | Health Risk | Pathogenic | Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency |
| RS387907238 | Health Risk | Pathogenic | Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency |