Mitochondrial pyruvate carrier 2

MPC2
Identifiers
Aliases	MPC2 , BRP44, mitochondrial pyruvate carrier 2, SLC54A2
External IDs	OMIM: 614737; MGI: 1917706; HomoloGene: 31675; GeneCards: MPC2; OMA:MPC2 - orthologs
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 left testis right testis right ventricle renal medulla mucosa of sigmoid colon Skeletal muscle tissue of rectus abdominis myocardium of left ventricle liver Top expressed in cardiac muscle tissue of left ventricle masseter muscle interventricular septum atrioventricular valve seminiferous tubule extensor digitorum longus muscle digastric muscle right kidney tunica adventitia of aorta thoracic diaphragm 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

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

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

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

References

1. GRCh38: Ensembl release 89: ENSG00000143158 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026568 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–435. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
6. Tsou AP, Lai C, Danielson P, Noonan DJ, Sutcliffe JG (March 1986). "Structural characterization of a heterogeneous family of rat brain mRNAs". Molecular and Cellular Biology. 6 (3): 768–778. doi:10.1128/mcb.6.3.768. PMC   367577 . PMID   3022128.
7. "BRP44 brain protein 44". Entrez Gene.
8. "mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family". UniProt.
9. "Pyruvate transmembrane transporter activity". QuickGO. EMBL-EBI.
10. Pujol C, Lebigot E, Gaignard P, Galai S, Kraoua I, Bault JP, et al. (March 2023). "MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy". Brain. 146 (3): 858–864. doi:10.1093/brain/awac444. PMC   9976959 . PMID   36417180.

Further reading

• Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–1795. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (September 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–292. doi:10.1093/embo-reports/kvd058. PMC   1083732 . PMID   11256614.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, et al. (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–2144. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, et al. (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–D418. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.