N-acetylglucosamine-6-sulfatase

Mucopolysaccharidosis 3D

MPS3D

A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.

None

The disease is caused by variants affecting the gene represented in this entry.

The form A (78 kDa) is processed by internal peptidase cleavage to a 32 kDa N-terminal species (form B) and a 48 kDa C-terminal species.

The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.

Belongs to the sulfatase family.

• Lysosome

N-acetylglucosamine-6-sulfatase, Glucosamine-6-sulfatase, G6S, GNS

• entrezGene:2799
• omim:607664
• swissprot:P15586

Proteins

Oncology

62082Da