Gene: [04q/AGA] aspartyl-beta-glucosaminidase; aspartylglycosaminuria;
FUN | The reaction catalyzed: N4-(beta-N-acetyl-D-glucosaminyl)-L-asparagine + H(2)O = = N-acetyl-beta-glucosaminylamine + L-aspartate." |
REF | LOC,CYG
"Aula &: AJHG, 36, 1215-1224, 1984a PND "Aula &: Am J Med Genet, 19, 359-367, 1984b PHE,FOG,POG "Autio &: Birth Def Orig Art Ser, 10, N4, 193-200, 1974 PHE,FOG,POG "Borud, Torp: Lancet, 1, 1082-1083, 1976 LIN,POL,MAG "Gron &: CCG, 51, (HGM10), 1008, 1989 PHE,FOG,POG "Hreidarsson &: Clin Genet, 23, 427-435, 1983 PHE,FOG,POG "Isenberg, Sharp: Hum Pathol, 7, 469-481, 1976 |
SWI | SWISSPROT: P20933 |
KEY | lys, mtbd, neu |
CLA | coding, basic |
LOC | 04 q23-35 |
MIM | MIM: 208400 |
EZN | ENZYME: 3.5.1.26 |
