MPC2
Identifiers
AliasesMPC2, BRP44, mitochondrial pyruvate carrier 2, SLC54A2
External IDsOMIM: 614737 MGI: 1917706 HomoloGene: 31675 GeneCards: MPC2
Orthologs
SpeciesHumanMouse
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 MbChr 1: 165.29 – 165.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

[[File:
GlycolysisGluconeogenesis_WP534
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GlycolysisGluconeogenesis_WP534
|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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000143158 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 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

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