Entrez Summary: 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. [provided by RefSeq, Jun 2017].
UniProt Summary: Catalyzes a step in lysosomal heparan sulfate degradation. {ECO:0000269|PubMed:15146460, ECO:0000269|PubMed:24816101, ECO:0000269|PubMed:7493035}.
Pfam DomainsGO Terms
Pfam Domains
Phosphodiest
Sulfatase
GO Terms
N-sulfoglucosamine sulfohydrolase activity
heparan sulfate proteoglycan catabolic process
proteoglycan catabolic process
sulfuric ester hydrolase activity
glycoprotein catabolic process
heparan sulfate proteoglycan metabolic process
glycosaminoglycan catabolic process
aminoglycan catabolic process
proteoglycan metabolic process
lysosomal lumen
glycosaminoglycan metabolic process
aminoglycan metabolic process
carbohydrate derivative catabolic process
lysosome
glycoprotein metabolic process
protein catabolic process
cellular macromolecule catabolic process
carbohydrate derivative metabolic process
macromolecule catabolic process
organonitrogen compound catabolic process
organic substance catabolic process
cellular catabolic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)