N-Acetylgalactosaminidase Alpha (NAGalpha) ELISA Kit for Horse

NAGA: Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids. Defects in NAGA are the cause of Schindler disease (SCHIND). Schindler disease is a form of NAGA deficiency characterized by early onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive. Defects in NAGA are the cause of Kanzaki disease (KANZD); also known as NAGA deficiency type II or Schindler disease type II. Kanzaki disease is an autosomal recessive disorder characterized by late onset, angiokeratoma corporis diffusum and mild intellectual impairment. Belongs to the glycosyl hydrolase 27 family.

Protein type: EC 3.2.1.49; Glycan Metabolism - glycosphingolipid biosynthesis - globo series; Hydrolase

Chromosomal Location of Human Ortholog: 22q11

Cellular Component: lysosome; cytoplasm

Molecular Function: protein homodimerization activity; alpha-galactosidase activity; alpha-N-acetylgalactosaminidase activity

Biological Process: glycolipid catabolic process; carbohydrate catabolic process; glycoside catabolic process; glycosylceramide catabolic process; oligosaccharide metabolic process

Disease: Schindler Disease, Type I; Kanzaki Disease