MPC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | MPC2, BRP44, mitochondrial pyruvate carrier 2, SLC54A2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 614737; MGI: 1917706; HomoloGene: 31675; GeneCards: MPC2; OMA:MPC2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
|
Mitochondrial pyruvate carrier 2 (MPC2) also known as brain protein 44 (BRP44) is a protein that in humans is encoded by the MPC2 gene.[5][6][7] It is a member of the Mitochondrial Pyruvate Carrier (MPC) protein family.[8] This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.[9]
Click on genes, proteins and metabolites below to link to respective articles.[§ 1]
|alt=Glycolysis and Gluconeogenesis edit]] Glycolysis and Gluconeogenesis edit
Mutations in the MPC2 gene cause an autosomal recessive disease comparable to the symptoms of Mitochondrial pyruvate carrier deficiency (MPC1 gene).[10] The symptoms associated with mutations in the MPC2 gene include early-onset neurological problems, normal lactate/pyruvate ratio (however both lactate and pyruvate are in higher than normal concentrations), lactic acidosis, hypotonia, cardiomegaly, and facial dysmorphia.[10]
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it. |
Genetic disorder, membrane: Solute carrier disorders
| |
---|---|
1-10 |
|
11-20 |
|
21-40 |
|
51-60 |
|
see also solute carrier family |