FABRAZYME 35 MG POLVO PARA CONCENTRADO PARA SOLUCION PARA PERFUSION

1R46,1R47,3GXN,3GXP,3GXT,3HG2,3HG3,3HG4,3HG5,3LX9,3LXA,3LXB,3LXC,3S5Y,3S5Z,3TV8,4NXS pancreatic ductal cellmonocyteseminal vesiculaamniotic fluidstromal cell of endometriumislet of Langerhansbone marrowbloodgranulocytemucosa of transverse colon deciduagranulocytestroma of bone marrowmorulalumbar spinal ganglionendothelial cell of lymphatic vesselcalvariablastocystileumblastocyst hydrolase activity, hydrolyzing O-glycosyl compoundsprotein homodimerization activityhydrolase activity, acting on glycosyl bondsraffinose alpha-galactosidase activityprotein bindinggalactoside bindingcatalytic activitysignaling receptor bindinghydrolase activityalpha-galactosidase activity cytoplasmGolgi apparatuslysosomal lumenlysosomeextracellular exosomeextracellular regionazurophil granule lumen negative regulation of nitric-oxide synthase activityglycosphingolipid metabolic processglycosphingolipid catabolic processnegative regulation of nitric oxide biosynthetic processmetabolismoligosaccharide metabolic processneutrophil degranulationglycoside catabolic processglycosylceramide catabolic processcarbohydrate metabolic process 2717 11605 ENSG00000102393 ENSMUSG00000031266 P06280 P51569 NM_000169 NM_013463 NP_000160 NP_038491 Galactosidase alphais anenzymethat in humans is encoded by theGLAgene. Pathogenic mutations in theGLAgene impair the synthesis, folding, or stability of lysosomal α‑galactosidase A, leading toFabry disease, an X‑linkedlysosomal storage disordercharacterized by deficient degradation and lysosomal accumulation ofglycosphingolipidssuch asglobotriaosylceramide. Tworecombinantforms of human α-galactosidase A, encoded by the humanGLAgene, are calledagalsidase alpha(INN) andagalsidase beta(INN),and are used asenzyme replacement therapyfor Fabry disease.