Gene: [07q22/GUSB] glucuronidase, beta; mucopolysaccharidosis VII (Sly syndrome);
FUN | Systematic name: beta-D-glucuronide glucuronosohydrolase. The reaction catalyzed: a beta-D-glucuronoside + H(2)O = an alcohol + D-glucuronate." |
REF | LOC,CYG "Allanson &: CCG, 46, (HGM9), 570, 1987 LOC,CYG "Danesino &: CCG, 46, (HGM9), 603, 1987 LOC,CYG "Frydman M &: Am J Med Genet, 25, 245-249, 1986 PRO,EXP "Guise KS &: Gene, 34, 105-110, 1985 COD,SEQ,EXP "Oshima A &: PNAS, 84, N3, 685-689, 1987 HIS,PAT,MEB "Sly &: J Pediatr, 82, 249-252, 1973 |
SWI | SWISSPROT: P08236 |
KEY | mtbd, carb, lys |
CLA | coding, basic |
LOC | 07 q22 |
MIM | MIM: 253220 |
EZN | ENZYME: 3.2.1.31 |
