Gene: [17q23/GAA] glucosidase, alpha (lysosomal; acid maltase); glycogen storage disease II (glycogenosis; Pompe disease);


COM

In the original report (Martiniuk-1986) on the GAA cloning and mapping, acid maltase (1,4-alpha-D-glucane glucohydrolase) gene was concerned, which hydrolyses plysaccharides faster than oligosaccharides and has the code EC:3.2.1.3. The GDB indicates for GAA EC:3.2.1.20, which corresponds to another maltase (alpha-D-glucoside glucohydrolase; see GEM:11q/GANAB; GEM:15^/GANC). This enzyme, on the contrary, hydrolyses polysaccharides, if at all, slower than monosaccharides."

REF

PAT,MOL "Beratis &: AJHG, 35, 21-33, 1983
PAT,MOL "Beratis &: J Clin Invest, 62, 1264-1274, 1978
MGC,PND "Besancon &: Clin Genet, 27, 479-482, 1985
LOC "D'Ancona GG &: PNAS, 76, N9, 4526-4529, 1979
HIS,PHE,FOG "Danon &: Neurology, 36, 818-822, 1986
LOC "Halley DJ &: Hum Genet, 67, 326-328, 1984
HIS,PHE,FOG "Hers HG: Biochem J, 86, 1-6, 1963
EXP "Hoefsloot LH &: Biochem J, 272, N2, 485-492, 1990a
GEN,SEQ,EVO "Hoefsloot LH &: Biochem J, 272, N2, 493-497, 1990b
PRO,EVO,SEQ "Hoefsloot LH &: EMBO J, 7, 1697-1704, 1988
LOC "Honig &: Ann Hum Genet, 48, 49-56, 1984
PRO,PRI "Konings A &: BBRC, 119, 252-258, 1984
HIS,PHE,FOG "Koster &: Clin Chim Acta, 87, 451-453, 1978
MGC,PND "Loonen &: Clin Genet, 19, 55-63, 1981a
HIS,PHE,FOG "Loonen &: Neurology, 31, 1209-1216, 1981b
PRO,EXP,PAT "Martiniuk F &: PNAS, 83, N24, 9641-9644, 1986
LOC "Martiniuk F &: Hum Genet, 69, 109-111, 1985
LOC "Nickel &: CCG, 32, (HGM6), 303-304, 1982
HIS,PHE,FOG "Pompe JC: Ned Tijdschr Geneesk, 76, 304-311, 1932
PAT,MOL "Reuser &: J Clin Invest, 79, 1689-1699, 1987
PAT,MOL "Reuser &: AJHG, 30, 132-143, 1978
LOC "Sandison A &: Clin Genet, 22, 30-36, 1982
HIS,PHE,FOG "Smith &: Neurology, 17, 537-549, 1967
LOC "Solomon E &: Ann Hum Genet, 42, 273-281, 1979
PAT,MOL "Steckel F &: FEBS Lett, 150, 69-76, 1982
HIS,PHE,FOG "Trend &: Brain, 108, 845-860, 1985
MUT,MOL "Van der Ploeg AT &: AJHG, 44, N6, 787-793, 1989
LOC "Weil &: Hum Genet, 52, 249-257, 1979

KEY

carb, mtbd, lys, card, neu

CLA

coding, basic

LOC

17 q23

MIM

MIM: 232300

EZN

ENZYME: 3.2.1.3

鸯铗痂蝈 蜞赕:

  • 嚯-(1->4)-汶铉桎噻 (嚯-D)