SGSH

This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined.

Full Name

N-Sulfoglucosamine Sulfohydrolase

Function

Catalyzes a step in lysosomal heparan sulfate degradation.

Biological Process

Biological Process glycosaminoglycan catabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process heparan sulfate proteoglycan catabolic processManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Lysosome

Involvement in disease

Mucopolysaccharidosis 3A (MPS3A):
A severe 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. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival.

PTM

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.