SLC25A1

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SLC25A1
Identifiers
Aliases SLC25A1, CTP, D2L2AD, SEA, SLC20A3, solute carrier family 25 member 1
External IDs HomoloGene: 136551 GeneCards: SLC25A1
RNA expression pattern
PBB GE SLC25A1 210010 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 Mb n/a
PubMed search [1] n/a
Wikidata
View/Edit Human

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


See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ 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. doi:10.1006/geno.1995.9982. PMID 8666394. 
  3. ^ 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. doi:10.3109/10425179709034029. PMID 9254007. 
  4. ^ "Entrez Gene: SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1". 
  5. ^ 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. doi:10.1016/j.ajhg.2013.03.009. PMID 23561848. 

Further reading[edit]

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