Gene: [02q37/UGT1] UDP-glucuronosyltransferase 1; Crigler-Najjar syndrome type I (MIM:218800); Crigler-Najjar syndrome type II (Gilbert syndrome; MIM:143500);
FUN | Systematic name: UDP-glucuronate beta-D-glucuronosyltransferase (acceptor-unspecific). The reaction catalyzed: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside." |
REL | FAM:UGT2B/04q13. |
EXP | Isozymes A (SWI:P22309), B (SWI:P36509), C (SWI:P35503), D (SWI:P22310), E (SWI:P35504), and F (SWI:P19224) are produced by alternative splicing." |
REF | MUT "Aono S &: Pediatr
Res, 35, 629-632, 1994 MUT "Aono S &: BBRC, 197, N3, 1239-1244, 1993 MUT "Bosma PJ &: New Engl J Med, 333, N18, 1171-1175, 1995 MUT "Bosma PJ &: Gastroenterology, 105, 216-220, 1993 MUT "Ciotti M &: JBC, 270, 3284-3291, 1995 MUT "Erps LT &: J Clin Invest, 93, 564-570, 1994 FUN,EXP,MEB "Fournel-Gigleux &: FEBS Lett, 243, N2, 119-122, 1989 PRO,LOC "Harding D &: Ann Hum Genet, 54, 17-21, 1990 PRO,LOC "Harding D &: CCG, 51, (HGM10), 1011, 1989 COD,SEQ,EXP,MOP "Harding D &: PNAS, 85, N22, 8381-8385, 1988 COD,SEQ,EXP,MOP "Jackson MR &: Biochem J, 242, 581-588, 1987 MUT "Koiwai O &: Hum Mol Genet, 4, 1183-1186, 1995 COD,SEQ,EXP,MOP "Mackenzie &: JBC, 265, 8699-8703, 1990 MUT "Moghrabi N &: Genomics, 18, 171-173, 1993a PND "Moghrabi N &: AJHG, 53, 722-729, 1993b LOC "Moghrabi N &: Ann Hum Genet, 56, 81-91, 1992 CLO,SEQ "Mojarrabi B &: BBRC, 225, N3, 785-790, 1996 MUT "Ritter JK &: JBC, 268, 23573-23579, 1993 MUT "Rosatelli MC &: J Med Genet, 34, N2, 122-125, 1997 MUT "Seppen J &: J Clin Invest, 94, 2385-2391, 1994 CLO,EXP "Wooster R &: Biochem J, 278, 465-469, 1991 |
SWI | SWISSPROT: P22309; UD12 P36509; UD13 P35503; UD14 P22310; UD15 P35504; SWISSPROT: P19224 |
KEY | carb, xen |
CLA | coding, basic |
LOC | 02 q37 |
MIM | MIM: 191740 |
EZN | ENZYME: 2.4.1.17 |
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