| solute carrier family 25, member 13 (citrin) | |||||||
|---|---|---|---|---|---|---|---|
 The protein citrin (PDB 4P5W) is a dimer and is composed of two equal polypeptide chains. | |||||||
| 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).
- ^ 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.