Mitochondrial pyruvate carrier 2 explained

Mitochondrial pyruvate carrier 2 (MPC2) also known as brain protein 44 (BRP44) is a protein that in humans is encoded by the MPC2 gene.^{[1] [2] [3]} It is a member of the Mitochondrial Pyruvate Carrier (MPC) protein family.^[4] This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.^[5]

Clinical significance

Mutations in the MPC2 gene cause an autosomal recessive disease comparable to the symptoms of Mitochondrial pyruvate carrier deficiency (MPC1 gene).^[6] 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

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

Further reading

• Hartley JL, Temple GF, Brasch MA . DNA cloning using in vitro site-specific recombination . Genome Research . 10 . 11 . 1788–1795 . November 2000 . 11076863 . 310948 . 10.1101/gr.143000 .
• Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S . Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing . EMBO Reports . 1 . 3 . 287–292 . September 2000 . 11256614 . 1083732 . 10.1093/embo-reports/kvd058 .
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A . 6 . From ORFeome to biology: a functional genomics pipeline . Genome Research . 14 . 10B . 2136–2144 . October 2004 . 15489336 . 528930 . 10.1101/gr.2576704 .
• 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 . 6 . The LIFEdb database in 2006 . Nucleic Acids Research . 34 . Database issue . D415–D418 . January 2006 . 16381901 . 1347501 . 10.1093/nar/gkj139 .

Notes and References

1. 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 . 6 . 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 . March 2001 . 11230166 . 311072 . 10.1101/gr.GR1547R .
2. Tsou AP, Lai C, Danielson P, Noonan DJ, Sutcliffe JG . Structural characterization of a heterogeneous family of rat brain mRNAs . Molecular and Cellular Biology . 6 . 3 . 768–778 . March 1986 . 3022128 . 367577 . 10.1128/mcb.6.3.768 .
3. Web site: Entrez Gene . BRP44 brain protein 44 .
4. Web site: mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family . UniProt .
5. Web site: Pyruvate transmembrane transporter activity . QuickGO . EMBL-EBI .
6. 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 . 6 . MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy . Brain . 146 . 3 . 858–864 . March 2023 . 36417180 . 9976959 . 10.1093/brain/awac444 .