DefinitionThis section has been translated automatically.
GLA (galactosidase alpha) is a protein-coding gene located on chromosome Xq22.1.
This gene encodes a homodimeric glycoprotein, a hydrolase that hydrolyzes the terminal alpha-galactosyl units of glycolipids and glycoproteins. The enzyme mainly hydrolyzes ceramide trihexoside and can catalyze the hydrolysis of melibiose into galactose and glucose.
A number of mutations in this gene impair the synthesis, processing and stability of this enzyme, leading to the clinical picture of Fabry disease, a rare lysosomal storage disease resulting from an inability to catabolize alpha-D-galactosyl glycolipid units.
Clinical pictureThis section has been translated automatically.
Diseases associated with GLA include Fabry disease and GLA-associated hypertrophic cardiomyopathy.
LiteratureThis section has been translated automatically.
- Ashton-Prolla P et al. (2000) Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med 48:227-235.
- Turaça LT et al. (2o12) New mutations in the GLA gene in Brazilian families with Fabry disease. J Hum Genet 57:347-351