mitochondrial pyruvate carrier 2
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Mitochondrial pyruvate carrier 2 (MPC2) also known as brain protein 44 (BRP44) is a protein that in humans is encoded by the MPC2 gene.{{cite journal | vauthors = Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A | display-authors = 6 | title = Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs | journal = Genome Research | volume = 11 | issue = 3 | pages = 422–435 | date = March 2001 | pmid = 11230166 | pmc = 311072 | doi = 10.1101/gr.GR1547R }}{{cite journal | vauthors = Tsou AP, Lai C, Danielson P, Noonan DJ, Sutcliffe JG | title = Structural characterization of a heterogeneous family of rat brain mRNAs | journal = Molecular and Cellular Biology | volume = 6 | issue = 3 | pages = 768–778 | date = March 1986 | pmid = 3022128 | pmc = 367577 | doi = 10.1128/mcb.6.3.768 }}{{cite web | work = Entrez Gene | title = BRP44 brain protein 44 | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25874}} It is a member of the Mitochondrial Pyruvate Carrier (MPC) protein family.{{cite web | url=https://www.uniprot.org/uniprot/?query=family:%22mitochondrial+pyruvate+carrier+%28MPC%29+%28TC+2.A.105%29+family%22 | title=mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family | work = UniProt }} This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.{{Cite web|url=https://www.ebi.ac.uk/QuickGO/term/GO:0050833|title=Pyruvate transmembrane transporter activity | work = QuickGO | publisher = EMBL-EBI }}
Interactive pathway map
{{GlycolysisGluconeogenesis_WP534|highlight=BRP44}}
Clinical significance
Mutations in the MPC2 gene cause an autosomal recessive disease comparable to the symptoms of Mitochondrial pyruvate carrier deficiency (MPC1 gene).{{cite journal | vauthors = Pujol C, Lebigot E, Gaignard P, Galai S, Kraoua I, Bault JP, Dard R, Youssef-Turki IB, Omar S, Boutron A, Wai T, Slama A | display-authors = 6 | title = MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy | journal = Brain | volume = 146 | issue = 3 | pages = 858–864 | date = March 2023 | pmid = 36417180 | pmc = 9976959 | doi = 10.1093/brain/awac444 }} 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.
See also
References
{{reflist}}
Further reading
{{refbegin | 2}}
- {{cite journal | vauthors = Hartley JL, Temple GF, Brasch MA | title = DNA cloning using in vitro site-specific recombination | journal = Genome Research | volume = 10 | issue = 11 | pages = 1788–1795 | date = November 2000 | pmid = 11076863 | pmc = 310948 | doi = 10.1101/gr.143000 }}
- {{cite journal | vauthors = Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S | title = Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing | journal = EMBO Reports | volume = 1 | issue = 3 | pages = 287–292 | date = September 2000 | pmid = 11256614 | pmc = 1083732 | doi = 10.1093/embo-reports/kvd058 }}
- {{cite journal | vauthors = Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A | display-authors = 6 | title = From ORFeome to biology: a functional genomics pipeline | journal = Genome Research | volume = 14 | issue = 10B | pages = 2136–2144 | date = October 2004 | pmid = 15489336 | pmc = 528930 | doi = 10.1101/gr.2576704 }}
- {{cite journal | vauthors = Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S | display-authors = 6 | title = The LIFEdb database in 2006 | journal = Nucleic Acids Research | volume = 34 | issue = Database issue | pages = D415–D418 | date = January 2006 | pmid = 16381901 | pmc = 1347501 | doi = 10.1093/nar/gkj139 }}
{{refend}}
{{gene-1-stub}}{{Inborn errors of carbohydrate metabolism}}{{Solute carrier disorders}}
Category:Inborn errors of carbohydrate metabolism