Protein Name galactosidase beta 1
Organism Homo sapiens
Gene ID 2720
Gene Symbol

GLB1

UniProt P16278 (BGAL_HUMAN), B7Z6Q5 (B7Z6Q5_HUMAN)
Relationships Total Number of functionally related compound(s) : 1142
Total Number of Articles : 1514
Description

galactosidase beta 1

Gene Summary

This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]

synonyms
  • beta-galactosidase
  • acid beta-galactosidase
  • elastin binding protein
Click to show/hide the synonyms
Properties