GLA

Function

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

Involvement in disease

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.

Sequence Similarities

Belongs to the glycosyl hydrolase 27 family.

Cellular localization

• Lysosome

Alternative names

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

Database links

swissprot:P06280 omim:300644 entrezGene:2717

Other research areas

• Neuroscience