Gene: [10q23/LIPA] lipase A, lysosomal acid (3.1.1.3); cholesterol esterase (EC:3.1.1.13); Wolman disease (lysosomal acid cholesteryl ester hydrolase deficiency);


REL

GEM:16^/LIPB; GEM:15q2/LIPC; GEM:19q13/LIPE; GEM:00.0/LIPG.

REF

SEQ "Ameis D &: Eur J Biochem, 219, 905-914, 1994
MUT "Anderson RA &: PNAS, 91, 2718-2722, 1994
LOC "Anderson RA &: Genomics, 15, 245-247, 1993
SEQ "Anderson RA, Sando GN: JBC, 266, 22479-22484, 1991
SEQ,GEN "Aslanidis C &: Genomics, 20, 329-331, 1994
PHE,PAT "Hoeg JM &: AJHG, 36, N6, 1190-1203, 1984
LOC,LIN,CYG "Koch G &: Somat Cell Genet, 7, 345-358, 1981
LOC,LIN,CYG "Koch G &: CCG, 25, (HGM5), 174, 1979
LOC,LIN,CYG "Nguyen VC &: Hum Genet, 55, N3, 375-381, 1980
PHE,PAT "Patrick, Lake: Nature, 222, 1067-1068, 1969

KEY

lys, lip, ats, mtbd

CLA

coding, basic

LOC

10 q23.2-.3

MIM

MIM: 278000

EZN

ENZYME: 3.1.1.3

Смотрите также:

  • гидролаза эфиров холестерола-HUGEN
  • HUGEN-гидролаза лизосомная