Gene: [01q21/GCGD] glucocerebrosidase (D-glucosyl-N-acylsphingosine glucohydrolase); Gaucher disease, type I, noncerebral juvenile (glucocerebrosidase deficiency); Gaucher disease, type II, cerebral infantile (glucocerebrosidase deficiency; MIM:230900); Gaucher disease, type III, cerebral juvenile and adult (glucocerebrosidase deficiency; MIM:231000);


COM

The GDB and MIM Catalogue refer to this gene as 'glucosidase beta, acid' (GBA), that corresponds to beta D-glucoside glucohydrolase (EC:3.2.1.21). However, the enzyme is actually D-glucosyl-N-acylsphingosine glucohydrolase, which deficiency is known to cause different types of Gaucher disease. This marker comes in the MIM Catalogue under the numbers MIM:230800, MIM:230900, and MIM:231000 (the two latter being not independent)."

FUN

The reaction catalyzed: D-glucosyl-N-acylsphingosine + H(2)O = D-glucose + N-acylsphingosine."

POL

In the province of Norrbotten (Sweden), where the incidence of Gaucher disease III is very high (1 per 5000 newborns), most probands are descended from a common heterozygous ancestor who lived in the beginning of 17th century. In this population, a MspI RFLP have been revealed within the coding region of the GCGD gene: one allele (1.70 kb) is found in homozygous patients, while the other (1.75 kb) is found in healthy persons (opposite homozygotes) and in heterozygotes. PvuII and NciI RFLPs reported for other populations have not been found there."

PSG

GEM:01q21/GCGDP.

REF

MUT,REV "Beutler E, Gelbart T: Hum Mut, 8, N3, 207-213, 1996
MUT "Beutler E &: Genomics, 15, N1, 203-205, 1993
CAG,POL "Beutler E, Gelbart T: Ann Hum Genet, 54, (Part 2), 149-153, 1990
MOP,EXP "Beutler E, Kuhl W: PNAS, 83, N19, 7472-7474, 1986
PHE "Blom, Erikson: Eur J Pediatr, 140, 316-322, 1983
MUT "Choy FYM &: Hum Mut, 5, N4, 345-347, 1995
MUT "Choy FYM &: Hum Mol Genet, 3, 821-823, 1994
MGC "Choy FYM &: Am J Med Genet, 27, 895-905, 1987
LOC,LIN "Cormand B &: Hum Genet, 100, 75-79, 1997
MUT "Cormand B &: Hum Mut, 5, N4, 303-309, 1995
CAG,POL "Dahl N &: Genomics, 3, N4, 296-298, 1988
MOP,EXP "Dinur T &: PNAS, 83, N6, 1660-1664, 1986
LOC,MOP "Ginns EI &: CCG, 40, (HGM8), 641-642, 1985a
LOC,MOP "Ginns EI &: PNAS, 82, N20, 7101-7105, 1985b
PRO "Ginns EI &: BBRC, 123, 574-580, 1984
MUT "Grace ME &: J Clin Invest, 99, 2530-2537, 1997
GEN,STR,EAG "Horowitz M &: Genomics, 4, 87-96, 1989
MUT "Ida H &: Hum Genet, 95, 717-720, 1995
MUT "Kim J-W &: Hum Mut, 7, N3, 214-218, 1996
MGC "Matoth &: Am J Med Genet, 27, 561-565, 1987
PRO,COD,SEQ,LOC,EAG,MOU "O'Neill RR &: PNAS, 86, N13, 5049-5053, 1989
MOP,ENG,EXP "Sorge JA &: AJHG, 41, 1016-1024, 1987a
MOP,ENG,EXP "Sorge JA &: PNAS, 84, N4, 906-909, 1987b
SEQ,PEP "Sorge JA &: PNAS, 82, N21, 7289-7293, 1985
PRO,MUT,POL "Tsuji S &: New Engl J Med, 316, 570-575, 1987
MUT "Walley AJ &: J Med Genet, 30, 280-283, 1993
PRO,MUT,POL "Wigderson M &: AJHG, 44, 365-377, 1989
CLO,SEQ,LOC "Winfield SL &: Genome Res, 7, N10, 1020-1026, 1997
PRO,MUT,POL "Zimran A &: Lancet, 2, (12 Aug), 349-352, 1989
MGC "Zlotogora &: J Med Genet, 23, 319-322, 1986

KEY

lys, carb, mtbd, neu

CLA

coding, basic

LOC

01 q21

MIM

MIM: 230800

EZN

ENZYME: 3.2.1.45

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