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);

COM

By fluorescence in situ hybridization, Takano-1993 assigned the GLB1 gene to Chr 3p21.33."

FUN

Catalyzes hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides."

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."

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)."

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)."

HET

See section: functional genomics.

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

KEY

lys, carb, mtbd

CLA

coding, basic

LOC

03 p21.33

MIM

MIM: 230500

EZN

ENZYME: 3.2.1.23