| solute carrier family 25, member 13 (citrin) | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | SLC25A13 | ||||||
| Alt. symbols | CTLN2 | ||||||
| NCBI gene | 10165 | ||||||
| HGNC | 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] 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
References
- ^ 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. S2CID 20137905.
- ^ 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.
- ^ 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. S2CID 1712349.
- ^ 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.
External links
- citrin at the US National Library of Medicine Medical Subject Headings (MeSH)
- GeneReviews/NCBI/NIH/UW entry on Citrin Deficiency
- SLC25A13 human gene location in the UCSC Genome Browser.
- SLC25A13 human gene details in the UCSC Genome Browser.