Anti-alpha-galactosidase A Antibody

Descrição detalhada : a-Galactosidase A (UniProt: P06280; EC:3.2.1.22, Alpha-D-galactosidase A, Alpha-D-galactoside galactohydrolase, Galactosylgalactosylglucosylceramidas GLA, Melibiase, Agalsidase) is encoded by the GLA gene (Gene ID: 2717) in human. a-galactosidase A is a homodimeric, lysosomal enzyme that catalyzes the hydrolysis of terminal alpha-galactosyl moieties from glycolipids and glycoproteins and participates to their degradation in the lysosome. It is synthesized with a signal peptide (aa 1-31), which is subsequently cleaved off to generate the mature form that is heavily glycosylated with asparagine-linked high mannose groups. Mutations in GLA gene have been linked to Fabry disease that is characterized by glycolipid accumulation in various tissues and leads to other complication such as renal failure and cardiac and cerebral complications.
Armazenamento : 2-8C
Embalagem : 1X25UG