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Mitochondrial pyruvate carrier 1

From Wikipedia, the free encyclopedia
MPC1
Identifiers
AliasesMPC1, BRP44L, MPYCD, dJ68L15.3, CGI-129, mitochondrial pyruvate carrier 1, SLC54A1
External IDsOMIM: 614738; MGI: 1915240; HomoloGene: 9384; GeneCards: MPC1; OMA:MPC1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001270879
NM_016098

NM_018819
NM_001364918
NM_001364919

RefSeq (protein)

NP_061289
NP_001351847
NP_001351848

Location (UCSC)Chr 6: 166.36 – 166.38 MbChr 17: 8.5 – 8.52 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Mitochondrial pyruvate carrier 1 (MPC1), also known as brain protein 44-like (BRP44L) and SLC54A1, is a protein that in humans is encoded by the MPC1 gene.[5] It is part of the Mitochondrial Pyruvate Carrier (MPC) protein family. This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.

Interactive pathway map

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Click on genes, proteins and metabolites below to link to respective articles.[§ 1]

[[File:
GlycolysisGluconeogenesis_WP534go to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to WikiPathwaysgo to articlego to Entrezgo to article
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GlycolysisGluconeogenesis_WP534go to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to WikiPathwaysgo to articlego to Entrezgo to article
|alt=Glycolysis and Gluconeogenesis edit]]
Glycolysis and Gluconeogenesis edit
  1. ^ The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534".

Clinical significance

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Mitochondrial pyruvate carrier deficiency (MPYCD) is an autosomal recessive disease due to mutations in the MPC1 gene on chromosome 6q27. It is an inborn error of carbohydrate metabolism that blocks aerobic glycolysis by preventing the transport of pyruvate from the cytosol into the mitochondrion for oxidative phosphorylation; however, anaerobic glycolysis is preserved. Common signs and symptoms include poor growth, normal lactate/pyruvate ratio (however both lactate and pyruvate are in higher than normal concentrations), hepatomegaly, lactic acidosis, hypoglycemia, neurological problems, and hypotonia.[6] A disease with comparable symptoms is also seen in autosomal recessive mutations of the MPC2 gene.[7]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000060762Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023861Ensembl, 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. ^ "HGNC data for MPC1". HUGO Gene Nomenclature Committee. Retrieved 2023-08-21.
  6. ^ "Mitochondrial pyruvate carrier 1; MPC1". Online Mendelian Inheritance in Man (OMIM). Retrieved 2023-08-21.
  7. ^ 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.