| UniProt Protein Function: | BRP44L: Mediates the uptake of pyruvate into mitochondria. Defects in MPC1 are the cause of 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. Belongs to the mitochondrial pyruvate carrier (MPC) family. Protein type: Mitochondrial; Membrane protein, multi-pass Chromosomal Location of Human Ortholog: 6q27 Cellular Component: mitochondrion Disease: Mitochondrial Pyruvate Carrier Deficiency |
| UniProt Protein Details: | |
| NCBI 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] |
| UniProt Code: | Q9Y5U8 |
| NCBI GenInfo Identifier: | 23396472 |
| NCBI Gene ID: | 51660 |
| NCBI Accession: | Q9Y5U8.1 |
| UniProt Secondary Accession: | Q9Y5U8,Q5TI66, Q9HB67, Q9UQN4, B2R5I7 |
| UniProt Related Accession: | Q9Y5U8 |
| Molecular Weight: | 12,347 Da |
| NCBI Full Name: | Mitochondrial pyruvate carrier 1 |
| NCBI Synonym Full Names: | mitochondrial pyruvate carrier 1 |
| NCBI Official Symbol: | MPC1 |
| NCBI Official Synonym Symbols: | MPYCD; BRP44L; CGI-129; dJ68L15.3 |
| NCBI Protein Information: | mitochondrial pyruvate carrier 1 |
| UniProt Protein Name: | Mitochondrial pyruvate carrier 1 |
| UniProt Synonym Protein Names: | Brain protein 44-like protein |
| Protein Family: | Mitochondrial pyruvate carrier |
| UniProt Gene Name: | MPC1 |
| UniProt Entry Name: | MPC1_HUMAN |
