EAW60486.1
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UniProt Related Accession #
NCBI Official Full Name
N-acetylgalactosaminidase, alpha-, isoform CRA_a
NCBI Official Synonym Full Names
N-acetylgalactosaminidase, alpha-
NCBI Protein Information
alpha-N-acetylgalactosaminidase; alpha-galactosidase B; Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B)
UniProt Protein Name
Alpha-N-acetylgalactosaminidase
UniProt Synonym Protein Names
Alpha-galactosidase B
NCBI Summary for NAGalpha
NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]
UniProt Comments for NAGalpha
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: Hydrolase; EC 3.2.1.49; Glycan Metabolism - glycosphingolipid biosynthesis - globo series
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; glycoside catabolic process; carbohydrate catabolic process; glycosylceramide catabolic process; oligosaccharide metabolic process
Disease: Kanzaki Disease; Schindler Disease, Type I
Research Articles on NAGalpha
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Products associated with NAGalpha elisa kit
Pathways associated with NAGalpha elisa kit
Diseases associated with NAGalpha elisa kit
Organs/Tissues associated with NAGalpha elisa kit
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