Immunogen sequence: WKDAGYEYL CIDDCWMAPQ RDSEGRLQAD PQRFPHGIRQ LANYVHSKGL KLGIYADVGN KTCAGFPGSF GYYDIDAQTF ADWGVDLLKF DGCYCDSLEN LADGYKHMSL ALNRTGRSIV YSCEWPLYMW PFQKPNYTEI RQYCNHWRNF ADIDDSWKSI KSILDWTSFN QERIVDVAGP GGWNDPDMLV IGNFGLSWNQ QVTQMALWAI MAAPLFMSND LRHISPQAKA LLQDKDVIAI NQDPLGKQGY QLRQGDNFEV WERPLSGLAW AVAMINRQEI GGPRSYTIAV ASLGKGVACN PACFITQLLP VKRKLGFYEW TSRLRSHINP TGTVLLQLEN TMQMSL (81-425 aa encoded by BC002689)
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.
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Protein Aliases: Agalsidase; agalsidase alfa; Alpha-D-galactosidase A; Alpha-D-galactoside galactohydrolase; alpha-D-galactoside galactohydrolase 1; alpha-gal A; Alpha-galactosidase A; galactosidase, alpha; Galactosylgalactosylglucosylceramidase GLA; Melibiase
Gene Aliases: Ags; GALA; GLA
UniProt ID: (Human) P06280
Molecular Function: galactosidase