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Citrin

From Wikidoc - Reading time: 5 min
For other uses, see Flavonoid.
Not to be confused with Citrine or Citrine (protein).
solute carrier family 25, member 13 (citrin)
Identifiers
SymbolSLC25A13
Alt. symbolsCTLN2
Entrez10165
HUGO10983
OMIM603859
RefSeqNM_014251
UniProtQ9UJS0
Other data
LocusChr. 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] and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).

The term Citrin when referring to Vitamin-P was the most active Bio-flavonoid in lemons, it was found to be Eriodictyol (but a more active form constituent was found there decades later).

See also

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References

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  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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