SGSH
Gene Information
- Official Symbol: SGSH
- Official Name: N-sulfoglucosamine sulfohydrolase
- Aliases and Previous Symbols: N/A
- Entrez ID: 6448
- UniProt: P51688
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- 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}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 15521
- Expression level (log2 read counts): 1.71