Gene Symbol | GLB1 |
Entrez Gene ID | 2720 |
Full Name | galactosidase beta 1 |
Synonyms | EBP,ELNR1,MPS4B |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | GM1-gangliosidosis, type I, 230500 (3); GM1-gangliosidosis, type II, 230600 (3); GM1-gangliosidosis, type III, 230650 (3); Mucopolysaccharidosis type IVB (Morquio), 253010 (3) |