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α-Galactosidase ( EC 3.2.1.22, α-GAL, α-GAL A; systematic name α-D-galactoside galactohydrolase) is a glycoside hydrolase enzyme that catalyses the following reaction: [1] Hydrolysis of terminal, non-reducing α- D -galactose residues in α- D -galactosides, including galactose oligosaccharides, galactomannans and galactolipids
A person who inherits this gene does not have enough of a functioning enzyme known as alpha-galactosidase A. The lack of alpha-galactosidase leads to Fabry disease. A deficiency of alpha galactosidase A (a-GAL A, encoded by GLA) due to mutation causes a glycolipid known as globotriaosylceramide (abbreviated as Gb3, GL-3, or ceramide trihexoside ...
Galactosidases are enzymes (glycoside hydrolases) that catalyze the hydrolysis of galactosides into monosaccharides.. Galactosides can be classified as either alpha or beta. If the galactoside is classified as an alpha-galactoside, the enzyme is called alpha-galactosidase, and is responsible for catalyzing the hydrolysis of substrates that contain α-galactosidic residues, such as ...
2717 11605 Ensembl ENSG00000102393 ENSMUSG00000031266 UniProt P06280 P51569 RefSeq (mRNA) NM_000169 NM_013463 RefSeq (protein) NP_000160 NP_038491 Location (UCSC) Chr X: 101.39 – 101.41 Mb Chr X: 133.49 – 133.5 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Galactosidase alpha is an enzyme that in humans is encoded by the GLA gene. Two recombinant forms of human α-galactosidase ...
Alpha-gal syndrome (AGS), also known as alpha-gal allergy or mammalian meat allergy (MMA), [1] is a type of acquired allergy characterized by a delayed onset of symptoms (3–8 hours) after ingesting mammalian meat. The condition results from past exposure to certain tick bites and was first reported in 2002.
Migalastat is used for the long-term treatment of Fabry disease in adults and adolescents aged 16 or older with an amenable mutation of the enzyme alpha-galactosidase A (α-GalA). An "amenable" mutation is one that leads to misfolding of the enzyme, but otherwise would not significantly impair its function. [8]
Galactose-α-1,3-galactose, commonly known as alpha gal and the Galili antigen, is a carbohydrate found in most mammalian cell membranes. It is not found in catarrhines , [ 1 ] including humans, who have lost the GGTA1 gene.
[2] [4] It is a recombinant human α-galactosidase-A. [4] It is a hydrolytic lysosomal neutral glycosphingolipid-specific enzyme. [2] The most common side effects are infusion-related reactions, hypersensitivity and asthenia. [4] Pegunigalsidase alfa was approved for medical use in both the European Union and the United States in May 2023. [4] [3]
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