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solute carrier family 25, member 13 (citrin)
Identifiers
Symbol SLC25A13
Alt. symbols CTLN2
Entrez 10165
HUGO 10983
OMIM 603859
RefSeq NM_014251
UniProt Q9UJS0
Other data
Locus Chr. 7 q21.3

Citrin also known as solute carrier family 25, member 13 (citrin) or SLC25A13 is a protein which in humans is encoded by the SLC25A13 gene.[1]

Citrin is associated with type II citrullinemia.[2][3][4]

See also

References

  1. ^ Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T (June 1999). "The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein". Nature genetics 22 (2): 159–63. doi:10.1038/9667. PMID 10369257.  
  2. ^ Saheki T, Kobayashi K (2002). "Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)". J. Hum. Genet. 47 (7): 333–41. doi:10.1007/s100380200046. PMID 12111366.  
  3. ^ Saheki T, Kobayashi K, Iijima M, Nishi I, Yasuda T, Yamaguchi N, Gao HZ, Jalil MA, Begum L, Li MX (2002). "Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency". Metab Brain Dis 17 (4): 335–46. doi:10.1023/A:1021961919148. PMID 12602510.  
  4. ^ Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, Moriyama M, Hsiao KJ, Yang Y (2004). "Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle". Mol. Genet. Metab. 81 Suppl 1: S20–6. doi:10.1016/j.ymgme.2004.01.006. PMID 15050970.  

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