Entrez gene ID | | 2717 |
Official gene symbol | | GLA |
Full name | | galactosidase, alpha |
Aliases | | ,GALA, |
Gene summary | | This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq] |
Location | | Chromosome: X Locus: Xq22 |
Gene position | | 100663001 - 100652779 Map Viewer |
Gene orientation | | minus |
Gene size | | 10223 bp |
Gene sequence |
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OMIM ID | | 300644 |
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