Protein Name | galactosidase beta 1 |
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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 |
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Properties | |