Gene: [02q21/LCT] lactase, intestinal (EC:3.2.1.108); phlorizin hydrolase (EC:3.2.1.62); disaccharide intolerance II (lactase deficiency); disaccharide intolerance III (adult lactase deficiency; MIM:223100);
FUN | The LCT molecule has both lactase activity (EC:3.2.1.108) and phlorizin hydrolase activity (EC:3.2.1.62). The lactase is an enzyme from intestinal mucosa isolated as a complex which also catalyses the reaction of EC:3.2.1.62." |
GEN | The gene length: ?. Exons: 17 (Boll-1991). |
REF | CLO,GEN,SEQ,EXP "Boll W &: AJHG, 48, N5, 889-902, 1991 LOC "Harvey CB &: Ann Hum Genet, 57, 179-185, 1993 LOC,CYG,MOL,POL,PRO "Kruse TA &: CCG, 51, (HGM10), 1026, 1989 LOC,CYG,MOL,POL,PRO "Kruse TA &: FEBS Lett, 240, 123-126, 1988 CLO,SEQ,EXP "Mantei N &: EMBO J, 7, 2705-2713, 1988 FUN,PAT "Montgomery RK &: FASEB J, 5, 2824-2832, 1991 PAT,PHE,FOG "Rinaldi &: Lancet, 1, 355-357, 1984 PAT,PHE,FOG "Savilahti &: Arch Dis Child, 58, 246-252, 1983 POL,PAT "Wang Y &: Hum Mol Genet, 4, 657-662, 1995 |
SWI | SWISSPROT: P09848 |
KEY | git, carb, mtbd |
CLA | coding, basic |
LOC | 02 q21 |
MIM | MIM: 223000 |
EZN | ENZYME: 3.2.1.108 |
