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Mitochondrial pyruvate carrier 2

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(Redirected from BRP44)
Protein-coding gene in the species Homo sapiens
MPC2
Identifiers
Aliases MPC2 , BRP44, mitochondrial pyruvate carrier 2, SLC54A2
External IDsOMIM: 614737; MGI: 1917706; HomoloGene: 31675; GeneCards: MPC2; OMA:MPC2 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr. Chromosome 1 (human) [1]
Band 1q24.2Start167,916,675 bp [1]
End167,937,072 bp [1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr. Chromosome 1 (mouse)[2]
Band 1|1 H2.3Start165,288,206 bp [2]
End165,308,783 bp [2]
RNA expression pattern
Bgee
Human Mouse (ortholog)
  • sperm

  • thoracic diaphragm

  • left testis

  • right testis

  • right ventricle

  • renal medulla

  • mucosa of sigmoid colon

  • Skeletal muscle tissue of rectus abdominis

  • myocardium of left ventricle

  • liver
  • cardiac muscle tissue of left ventricle

  • masseter muscle

  • interventricular septum

  • atrioventricular valve

  • seminiferous tubule

  • extensor digitorum longus muscle

  • digastric muscle

  • right kidney

  • tunica adventitia of aorta

  • thoracic diaphragm
More reference expression data
BioGPS
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
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 Mb Chr 1: 165.29 – 165.31 Mb
PubMed search[3] [4]
Wikidata

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

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

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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

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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

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143158Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026568Ensembl, 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. ^ a b 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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Stub icon

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

Sucrose, transport
(extracellular)
Disaccharide catabolism
Monosaccharide transport
Hexoseglucose
Monosaccharide catabolism
Fructose:
Galactose / galactosemia:
Glucoseglycogen
Glycogenesis
Glycogenolysis
Extralysosomal:
Lysosomal (LSD):
GlucoseCAC
Glycolysis
Gluconeogenesis
Pentose phosphate pathway
Other
Genetic disorder, membrane: Solute carrier disorders
1-10
11-20
21-40
51-60

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