GLA

Catalyzes the hydrolysis of glycosphingolipids and participates in their degradation in the lysosome.

Fabry disease

FD

Rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the glycosyl hydrolase 27 family.

• Lysosome

Alpha-galactosidase A, Alpha-D-galactosidase A, Alpha-D-galactoside galactohydrolase, Galactosylgalactosylglucosylceramidase GLA, Melibiase, GLA

• entrezGene:2717
• omim:300644
• swissprot:P06280

Proteins

Cardiovascular

• Neuroscience

48767Da