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

Смотрите также:

  • Непереносимость лактозы
  • Gene: [03q2/SI] glucosidase, oligo-1,6- (isomaltase: EC:3.2.1.10); glucosidase, sucrose alpha- (sucrase: EC:3.2.1.48); disaccharide intolerance I (sucrase deficiency I);