NAGA

Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.

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.

Belongs to the glycosyl hydrolase 27 family.

• Lysosome

Alpha-N-acetylgalactosaminidase, Alpha-galactosidase B, NAGA

• entrezGene:4668
• omim:104170
• swissprot:P17050

Proteins

Neuroscience

46565Da