NP_000160.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
alpha-galactosidase A
NCBI Official Synonym Full Names
galactosidase alpha
NCBI Official Synonym Symbols
NCBI Protein Information
alpha-galactosidase A
UniProt Protein Name
Alpha-galactosidase A
UniProt Synonym Protein Names
Alpha-D-galactosidase A; Alpha-D-galactoside galactohydrolase; Melibiase; INN: Agalsidase
NCBI Summary for AGAL
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]
UniProt Comments for AGAL
GLA: Defects in GLA are the cause of Fabry disease (FD). FD is a 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 globotriaoslyceramide (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. Belongs to the glycosyl hydrolase 27 family.
Protein type: Carbohydrate Metabolism - galactose; EC 3.2.1.22; Glycan Metabolism - glycosphingolipid biosynthesis - globo series; Hydrolase; Lipid Metabolism - glycerolipid; Lipid Metabolism - sphingolipid
Chromosomal Location of Human Ortholog: Xq22.1
Cellular Component: cytoplasm; extracellular region; Golgi apparatus; lysosomal lumen; lysosome
Molecular Function: alpha-galactosidase activity; catalytic activity; hydrolase activity; protein binding; protein homodimerization activity; receptor binding
Biological Process: glycoside catabolic process; glycosphingolipid catabolic process; glycosphingolipid metabolic process; glycosylceramide catabolic process; negative regulation of nitric oxide biosynthetic process; negative regulation of nitric-oxide synthase activity; neutrophil degranulation; oligosaccharide metabolic process
Disease: Fabry Disease
Research Articles on AGAL
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Products associated with AGAL recombinant protein
Pathways associated with AGAL recombinant protein
Diseases associated with AGAL recombinant protein
Organs/Tissues associated with AGAL recombinant protein
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