NAGA Monoclonal Antibody (OTI6F3), TrueMAB™, OriGene

Beskrivelse

NAGA (N-acetylgalactosaminidase, alpha), also known as alpha-galactosidase B or GALB, is a 411 lysosomal protein belonging to the glycosyl hydrolase 27 family that may exist as a homodimer and plays a critical role in glycolipid breakdown. NAGA encodes alpha-N-acetylgalactosaminidase, a lysosomal enzyme, which cleaves alpha-N-acetylgalactosaminyl groups from glycoconjugates. Mapping to human chromosome 22q13.2, NAGA defects are the cause of an autosomal recessive disorder with three phenotypes, known as Schindler disease (types I, II and III) or NAGA deficiency (types I, II and III). Characterized by neurologic manifestations that range in severity, Schindler disease type I is the most severe form, followed by type III, which may have mild-to-moderate effects. Schindler disease type II, also known as Kanzaki disease, is characterized by mild intellectual impairment and angiokeratoma corporis diffusum.