GLA

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]

Description

galactosidase, alpha

Protein family

Enzymes, Secreted proteins predicted by MDSP

Chromosome

X:q22.1 (100652791 - 100662913)

Ensembl ID

ENSG00000102393  (ver. 69.37)

Orthologs

Mouse Gla: ENSMUSG00000031266

Human splice variants
Mouse splice variants