Aliases for HGSNAT Gene
External Ids for HGSNAT Gene
Previous HGNC Symbols for HGSNAT Gene
Previous GeneCards Identifiers for HGSNAT Gene
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]
GeneCards Summary for HGSNAT Gene
HGSNAT (Heparan-Alpha-Glucosaminide N-Acetyltransferase) is a Protein Coding gene. Diseases associated with HGSNAT include Mucopolysaccharidosis, Type Iiic and Retinitis Pigmentosa 73. Among its related pathways are Innate Immune System and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and heparan-alpha-glucosaminide N-acetyltransferase activity.
UniProtKB/Swiss-Prot Summary for HGSNAT Gene
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.