Gene: [03p2133/GLB1] galactosidase, beta 1, acid; gangliosidosis, generalized GM1, type I, infant (galactosidase-beta-1 deficiency); gangliosidosis, generalized GM1, type II, juvenile (galactosidase-beta-1 deficiency; MIM:230600); gangliosidosis, generalized GM1, type III, adult (galactosidase-beta-1 deficiency; MIM:230650); mucopolysaccharidosis type IVB (Morquio syndrome B; MIM:253010);
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COM |
By fluorescence in situ hybridization, Takano-1993 assigned the GLB1 gene to Chr 3p21.33." |
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FUN |
Catalyzes hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides." |
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PAT |
Several clinical phenotypes related with the beta galactosidase deficiency have been described. Those are three forms of generalized gangliosidosis GM1 (infant, MIM:230500; juvenile, MIM:230600; and adult, MIM:230650, ones) and mucopolysaccharidosis IV-B (Morquio syndrome B; MIM:253010), as well as rare forms: a form without the keratan sulfate in urine (MIM:252300) and probably Morquio syndrome C, which was described by Beck-1986. All this forms are thought to be allelic variants accounted for by the mutations of the structural gene GLB1." |
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FAG |
[1] A gene for alpha galactosidase is mapped to Chr Xq2 (GEM:0Xq2/GLA).
[2] It is presumed that some other galactosidases exist: (1) a neutral one, which deficiency probably accounts for 'lactosylceramidosis' (MIM:245500), although the MIM Catalogue considers this marker as 'secondary,' and (2) galactosyl ceramide beta-galactosidase, which deficiency causes Krabbe's disease (globoid leukodystrophy, GLD/GCL; MIM:245200). [3] It is supposed that combined deficiency of neuraminidase and beta-galactosidase (MIM:256540; Goldberg syndrome or galactosialidosis, NGBE) is related to the 'correction' factor (glycoprotein gp52,46,32), which is necessary for the normal expression of both enzymes. The relevant gene is mapped to Chr 20q13.1 (GEM:20q131/CTSA)." |
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HIS |
This gene was originally mapped to Chr 22. Afterwards it was found that the structural gene for beta-galactosidase is located in Chr 3, while a putative gene for so called 'protector' protein (32kD) is erroneously assigned to Chr 22. The product of the latter gene is essential for stabilizing the aggregated monomeres of beta galactosidase (see GEM:20q131/CTSA)." |
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HET |
See section: functional genomics. |
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REF |
PAT,FAG "Beck &: Clin Genet, 29, 325-331, 1986 MUT "Boustany RM &: AJHG, 53, 881-888, 1993 LOC,CYG,MAP "Bruns GA &: CCG, 22, (HGM4), 177-181, 1978 MUT "Chakraborty S &: AJHG, 54, 1004-1013, 1994 LOC,CYG,MAP "De Wit J &: CCG, 25, (HGM5), 217, 1979 HIS,FAG "De Wit J &: Somat Cell Genet, 3, 351-363, 1977 PRO,LOC "Geihl &: CCG, 51, (HGM10), 1002-1003, 1989 FUN,PAT "Giugliani &: Hum Genet, 70, 347-354, 1985 MOD,MOU,PAT "Hahn CN &: Hum Mol Genet, 6, N2, 205-211, 1997 LOC,CYG,MAP "Hertz JM &: Hum Genet, 79, 389-391, 1988 FUN,PAT "Hoogeveen &: JBC, 261, 5702-5704, 1986 FUN,PAT "Li &: AJHG, 35, 629-634, 1983 MUT "Morrone A &: Hum Mut, 3, 112-120, 1994 LOC,CYG,MAP "Naylor SL &: AJHG, 34, 235-244, 1982 LOC,CYG,MAP "Shows TB &: Somat Cell Genet, 5, 147-158, 1979 LOC,CYG,MAP "Shows TB &: AJHG, 30, 134, 1978a LOC,CYG,MAP "Shows TB &: CCG, 22, (HGM4), 219-222, 1978b LOC,CYG,FAG "Sips HJ &: Hum Genet, 69, 340-344, 1985 MUT "Suzuki Y, Oshima A: Hum Genet, 91, 407-407, 1993 MUT "Takano T, Yamanouchi Y: Hum Genet, 92, 403-404, 1993 MUT "Yoshida K &: Ann Neurol, 31, 328-332, 1992 MUT "Yoshida K &: AJHG, 49, 435-442, 1991 |
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KEY |
lys, carb, mtbd |
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CLA |
coding, basic |
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LOC |
03 p21.33 |
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MIM |
MIM: 230500 |
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EZN |
ENZYME: 3.2.1.23 |
