GLA gene

Last updated on: 03.01.2024

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Definition
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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 picture
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Diseases associated with GLA include Fabry disease and GLA-associated hypertrophic cardiomyopathy.

Literature
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  1. 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.
  2. Turaça LT et al. (2o12) New mutations in the GLA gene in Brazilian families with Fabry disease. J Hum Genet 57:347-351

Incoming links (1)

Fabry's disease;

Outgoing links (1)

Fabry's disease;

Last updated on: 03.01.2024