Entity Details
Details
| PrimaryID | 51660 |
| RefseqGene | NG_032888 |
| Symbol | MPC1 |
| Name | mitochondrial pyruvate carrier 1 |
| Chromosome | 6 |
| Location | 6q27 |
| TaxID | 9606 |
| Status | live |
| SourceGenome | genomic |
| SourceOrigin | natural |
| CreationDate | 2000-05-12 |
| ModificationDate | 2021-06-13 |
GO terms
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| GO | Name |
| GO:0005739 | mitochondrion |
| GO:0006850 | mitochondrial pyruvate transmembrane transport |
| GO:0031305 | integral component of mitochondrial inner membrane |
| GO:0050833 | pyruvate transmembrane transporter activity |
Diseases
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| Disease ID | Source | Name | Description |
| 614741 | OMIM | Mitochondrial pyruvate carrier deficiency (MPYCD) | An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
4 interactions