Entity Details

Primary name GLA
Entity type gene
Source Source Link

Details

PrimaryID2717
RefseqGeneNG_007119
SymbolGLA
Namegalactosidase alpha
ChromosomeX
LocationXq22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-17
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsAGAL_HUMAN

GO terms

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GOName
GO:0003824 catalytic activity
GO:0004557 alpha-galactosidase activity
GO:0005102 signaling receptor binding
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005794 Golgi apparatus
GO:0006687 glycosphingolipid metabolic process
GO:0009311 oligosaccharide metabolic process
GO:0016139 glycoside catabolic process
GO:0016787 hydrolase activity
GO:0017041 galactosylgalactosylglucosylceramidase activity
GO:0035578 azurophil granule lumen
GO:0042803 protein homodimerization activity
GO:0043202 lysosomal lumen
GO:0043312 neutrophil degranulation
GO:0045019 negative regulation of nitric oxide biosynthetic process
GO:0046477 glycosylceramide catabolic process
GO:0046479 glycosphingolipid catabolic process
GO:0051001 negative regulation of nitric-oxide synthase activity
GO:0052692 raffinose alpha-galactosidase activity
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
301500 OMIMFabry 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. The disease is caused by variants affecting the gene represented in this entry.