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);
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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)." |
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FUN |
The reaction catalyzed: D-glucosyl-N-acylsphingosine + H(2)O = D-glucose + N-acylsphingosine." |
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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." |
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PSG |
GEM:01q21/GCGDP. |
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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 |
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KEY |
lys, carb, mtbd, neu |
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CLA |
coding, basic |
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LOC |
01 q21 |
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MIM |
MIM: 230800 |
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EZN |
ENZYME: 3.2.1.45 |
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