Mitochondrial pyruvate carrier 2

MPC2
Identifiers
Aliases	MPC2, BRP44, mitochondrial pyruvate carrier 2, SLC54A2
External IDs	OMIM: 614737 MGI: 1917706 HomoloGene: 31675 GeneCards: MPC2
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q24.2 Start 167,916,675 bp[1] End 167,937,072 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 H2.3 Start 165,288,206 bp[2] End 165,308,783 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm thoracic diaphragm right ventricle renal medulla liver jejunal mucosa right lobe of liver kidney body of tongue triceps brachii muscle Top expressed in masseter muscle interventricular septum atrioventricular valve seminiferous tubule extensor digitorum longus muscle digastric muscle thoracic diaphragm plantaris muscle sternocleidomastoid muscle medullary collecting duct More reference expression data BioGPS More reference expression data
Gene ontology Molecular function pyruvate transmembrane transporter activity Cellular component integral component of membrane mitochondrial inner membrane membrane mitochondrion nucleus integral component of mitochondrial inner membrane Biological process mitochondrial acetyl-CoA biosynthetic process from pyruvate positive regulation of insulin secretion involved in cellular response to glucose stimulus mitochondrial pyruvate transmembrane transport transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 25874 70456 Ensembl ENSG00000143158 ENSMUSG00000026568 UniProt O95563 Q5R3B4 Q9D023 RefSeq (mRNA) NM_001143674 NM_015415 NM_027430 RefSeq (protein) NP_001137146 NP_056230 NP_081706 Location (UCSC) Chr 1: 167.92 – 167.94 Mb Chr 1: 165.29 – 165.31 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Interactive pathway map[edit]

Click on genes, proteins and metabolites below to link to respective articles.^{[§ 1]}

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|alt=Glycolysis and Gluconeogenesis edit]]

Glycolysis and Gluconeogenesis edit

1. ^ The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534".

Clinical significance[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]

See also[edit]

• Mitochondrial pyruvate carrier 1 (MPC1)
• Inborn errors of carbohydrate metabolism

References[edit]

Further reading[edit]

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

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