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beta-galactosidase (lactase, acid beta-galactosidase, elastin receptor 1, GLB1, ELNR1)
Function:
- cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, & glycosaminoglycans
- hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides
Structure: belongs to the glycosyl hydrolase 35 family
Compartment: lysosome
Alternative splicing: named isoforms=2
Pathology:
- defects in GLB1 are the cause of
a) GM1-gangliosidosis type 1
b) GM1-gangliosidosis type 2
c) GM1-gangliosidosis type 3
d) mucopolysaccharidosis 4B
Notes: also see lactase
Specific
lactase
General
galactosidase
Properties
SIZE: entity length = 677 aa
MW = 76 kD
COMPARTMENT: lysosome
MOTIF: signal sequence {1-23}
N-glycosylation site {N26}
glutamate residue {E188}
N-glycosylation site {N247}
glutamate residue {E268}
N-glycosylation site {N464}
N-glycosylation site {N498}
N-glycosylation site {N542}
N-glycosylation site {N545}
N-glycosylation site {N555}
Database Correlations
OMIM correlations
UniProt P16278
Pfam PF01301
LOCUS-LINK correlations
ENZYME 3.2.1.23
References
- UniProt :accession P16278
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=GLB1
- Wikipedia, beta-galactosidase entry
http://en.wikipedia.org/wiki/beta-galactosidase
- Department of Veterans Affairs, VA National Formulary