Gene Symbol | MPC1 |
Entrez Gene ID | 51660 |
Full Name | mitochondrial pyruvate carrier 1 |
Synonyms | BRP44L,CGI-129,MPYCD,SLC54A1,dJ68L15.3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial pyruvate carrier deficiency, 614741 (3) |