SLC25A1

SLC25A1
Identifiers
AliasesSLC25A1, CTP, D2L2AD, SEA, SLC20A3, solute carrier family 25 member 1
External IDsHomoloGene: 136551 GeneCards: SLC25A1
Gene location (Human)
Chr.Chromosome 22 (human)[1]
BandNo data availableStart19,175,575 bp[1]
End19,178,830 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

6576

n/a

Ensembl

ENSG00000100075

n/a

UniProt

P53007

n/a

RefSeq (mRNA)

NM_001256534
NM_001287387
NM_005984

n/a

RefSeq (protein)

NP_001243463
NP_001274316
NP_005975
NP_001243463.1
NP_001274316.1

n/a

Location (UCSC)Chr 22: 19.18 – 19.18 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Tricarboxylate transport protein, mitochondrial is a protein that in humans is encoded by the SLC25A1 gene.[3][4][5] Mutations in this gene have been associated with the inborn error of metabolism combined D-2- and L-2-hydroxyglutaric aciduria.[6]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000100075 - Ensembl, May 2017
  2. "Human PubMed Reference:".
  3. Heisterkamp N, Mulder MP, Langeveld A, ten Hoeve J, Wang Z, Roe BA, Groffen J (August 1996). "Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region". Genomics. 29 (2): 451–6. PMID 8666394. doi:10.1006/geno.1995.9982.
  4. Iacobazzi V, Lauria G, Palmieri F (September 1997). "Organization and sequence of the human gene for the mitochondrial citrate transport protein". DNA Seq. 7 (3–4): 127–39. PMID 9254007. doi:10.3109/10425179709034029.
  5. "Entrez Gene: SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1".
  6. Nota B, Struys EA, Pop A, et al. (2013). "Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria.". Am. J. Hum. Genet. 92 (4): 627–631. PMC 3617390Freely accessible. PMID 23561848. doi:10.1016/j.ajhg.2013.03.009.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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