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Protein-coding gene in the species Homo sapiens
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] Mitochondrial Pyruvate Carrier (MPC) protein family .[ 8] 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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Glycolysis and Gluconeogenesis
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Clinical significance
Mutations in the MPC2 gene cause an autosomal recessive disease comparable to the symptoms of Mitochondrial pyruvate carrier deficiency (MPC1 gene).[ 10] [ 10]
See also
References
^ a b c GRCh38: Ensembl release 89: ENSG00000143158 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026568 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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 (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs" . Genome Res . 11 (3): 422– 35. doi :10.1101/gr.GR1547R . PMC 311072 PMID 11230166 . ^ Tsou AP, Lai C, Danielson P, Noonan DJ, Sutcliffe JG (Dec 1986). "Structural characterization of a heterogeneous family of rat brain mRNAs" . Mol Cell Biol . 6 (3): 768– 78. doi :10.1128/mcb.6.3.768 . PMC 367577 PMID 3022128 . ^ "Entrez Gene: BRP44 brain protein 44" .^ "UniProt" .^ "QuickGO" .^ a b Pujol, Claire; Lebigot, Elise; Gaignard, Pauline; Galai, Said; Kraoua, Ichraf; Bault, Jean-Philippe; Dard, Rodolphe; Youssef-Turki, Ilhem Ben; Omar, Souheil; Boutron, Audrey; Wai, Timothy; Slama, Abdelhamid (2023-03-01). "MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy" . Brain: A Journal of Neurology . 146 (3): 858– 864. doi :10.1093/brain/awac444 . ISSN 1460-2156 . PMC 9976959 PMID 36417180 .
Further reading
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination" . Genome Res . 10 (11): 1788– 95. doi :10.1101/gr.143000 . PMC 310948 PMID 11076863 . Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing" . EMBO Rep . 1 (3): 287– 92. doi :10.1093/embo-reports/kvd058 . PMC 1083732 PMID 11256614 . Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (2004). "From ORFeome to biology: a functional genomics pipeline" . Genome Res . 14 (10B): 2136– 44. doi :10.1101/gr.2576704 . PMC 528930 PMID 15489336 . 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 (2006). "The LIFEdb database in 2006" . Nucleic Acids Res . 34 (Database issue): D415–8. doi :10.1093/nar/gkj139 . PMC 1347501 PMID 16381901 .
