MPC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | MPC2 , BRP44, mitochondrial pyruvate carrier 2, SLC54A2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 614737 MGI: 1917706 HomoloGene: 31675 GeneCards: MPC2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
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]
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]
Probable G-protein coupled receptor 85 is a protein that in humans is encoded by the GPR85 gene.
Beta-taxilin is a protein that in humans is encoded by the TXLNB gene.
39S ribosomal protein L15, mitochondrial is a protein that in humans is encoded by the MRPL15 gene.
Transmembrane protein 47 is a protein that in humans is encoded by the TMEM47 gene.
Zinc transporter 7 is a protein that in humans is encoded by the SLC30A7 gene.
NADH dehydrogenase [ubiquinone] 1 subunit C2 is an enzyme that in humans is encoded by the NDUFC2 gene.
Hippocalcin like 4, also known as HPCAL4, is a human gene.
Tripartite motif-containing protein 68 is a protein that in humans is encoded by the TRIM68 gene.
AP-1 complex-associated regulatory protein is a protein that in humans is encoded by the AP1AR gene.
Probable ATP-dependent RNA helicase DDX43 is an enzyme that in humans is encoded by the DDX43 gene.
Synaptotagmin-13 is a protein that in humans is encoded by the SYT13 gene.
Neurensin-2 is a protein that in humans is encoded by the NRSN2 gene.
Mitochondrial import receptor subunit TOM40B is a protein that in humans is encoded by the TOMM40L gene.
Ankyrin repeat domain-containing protein 13C is a protein that in humans is encoded by the ANKRD13C gene.
Opalin is a protein that is encoded in humans by the OPALIN gene.
Protein FAM19A1 is a protein that in humans is encoded by the FAM19A1 gene.
Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial is a protein that in humans is encoded by the COQ4 gene.
Coiled-coil domain-containing protein KIAA1826 is a protein that in humans is encoded by the KIAA1826 gene.
NudC domain-containing protein 2 is a protein that in humans is encoded by the NUDCD2 gene.
Mitochondrial pyruvate carrier 1 (MPC1), also known as brain protein 44-like (BRP44L) and SLC54A1, is a protein that in humans is encoded by the MPC1 gene. It is part of the Mitochondrial Pyruvate Carrier (MPC) protein family. This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.