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Open Access Articles- Top Results for SLC25A1

SLC25A1

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Identifiers
SymbolsSLC25A1 ; CTP; D2L2AD; SEA; SLC20A3
External IDsOMIM190315 MGI1345283 HomoloGene136551 IUPHAR: 1051 GeneCards: SLC25A1 Gene
RNA expression pattern
File:PBB GE SLC25A1 210010 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez657613358
EnsemblENSG00000100075ENSMUSG00000003528
UniProtP53007Q8JZU2
RefSeq (mRNA)NM_001256534NM_153150
RefSeq (protein)NP_001243463NP_694790
Location (UCSC)Chr 22:
19.16 – 19.17 Mb
Chr 16:
17.93 – 17.93 Mb
PubMed search[1][2]

Tricarboxylate transport protein, mitochondrial is a protein that in humans is encoded by the SLC25A1 gene.[1][2][3] Mutations in this gene have been associated with the inborn error of metabolism combined D-2- and L-2-hydroxyglutaric aciduria.[4]


See also

References

  1. ^ Heisterkamp N, Mulder MP, Langeveld A, ten Hoeve J, Wang Z, Roe BA, Groffen J (Aug 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. 
  2. ^ Iacobazzi V, Lauria G, Palmieri F (Sep 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. 
  3. ^ "Entrez Gene: SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1". 
  4. ^ 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. PMID 23561848. doi:10.1016/j.ajhg.2013.03.009. 

Further reading

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