Aliases for MPC1 Gene
External Ids for MPC1 Gene
Previous HGNC Symbols for MPC1 Gene
Previous GeneCards Identifiers for MPC1 Gene
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]
GeneCards Summary for MPC1 Gene
MPC1 (Mitochondrial Pyruvate Carrier 1) is a Protein Coding gene. Diseases associated with MPC1 include Mitochondrial Pyruvate Carrier Deficiency and Kabuki Syndrome 1. Among its related pathways are Pyruvate metabolism and Citric Acid (TCA) cycle and Glucose / Energy Metabolism. GO annotations related to this gene include pyruvate transmembrane transporter activity. An important paralog of this gene is MPC1L.
UniProtKB/Swiss-Prot for MPC1 Gene
Mediates the uptake of pyruvate into mitochondria.