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, Jul 2008]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
GLA-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
GLA-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
GLA-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
GLA-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
GLA-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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, Jul 2008]
Gene Symbol : GLA
Gene Name : Galactosidase alpha
Chromosome : CHR X: 101,408,012-101,397,790
Locus : Xq22.1
Alt. Genes : SGK2
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