Alpha-N-acetylgalactosaminidase
Function
Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.
Involvement in disease
Schindler disease
SCHIND
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Kanzaki disease
KANZD
Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the glycosyl hydrolase 27 family.
Cellular localization
- Lysosome
Alternative names
Alpha-N-acetylgalactosaminidase, Alpha-galactosidase B, NAGA