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

鸯铗痂蝈 蜞赕:

  • 沐 UGT1A1 (汶箴铐桦蝠囗耵屦噻)