HGSNAT
Gene Information
- Official Symbol: HGSNAT
- Official Name: heparan-alpha-glucosaminide N-acetyltransferase
- Aliases and Previous Symbols: N/A
- Entrez ID: 138050
- UniProt: Q68CP4
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009].
- UniProt Summary: Lysosomal acetyltransferase that acetylates the non- reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase. {ECO:0000269|PubMed:16960811, ECO:0000269|PubMed:17033958, ECO:0000269|PubMed:19823584, ECO:0000269|PubMed:20650889}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 15532
- Expression level (log2 read counts): 2.59
HGSNAT Expression in NALM6 Cells: 2.59
