α-gal A (H-104) Antibody: sc-25823

α-gal A Background Information
å-galactosidase A (å-gal A) functions as a lysosomal hydrolase. å-gal A forms an active homodimer that acts upon a glycolipid substrate, globotriaosylceramide (Gb3). The gene encoding å-gal A maps to chromosome Xq22 (1). Inherited mutations in this gene cause an X-linked recessive glycolipid storage disorder known as Fabry’s disease (2). In Fabry patients, å-gal A deficiencies lead to an accumulation of Gb3 in the body. The numerous clinical manifestations of the disease include renal and cardiac impairment, severe pain in the extremities and cutaneous lesions known as angiokeratomas. Enzyme replacement therapy using recombinant å-gal A effectively treats the symptoms of Fabry disease (3-6).