HGSNAT, Official Symbol HGSNATprovided by HGNC Official Full Name heparan-alpha-glucosaminide N-acetyltransferaseprovided by HGNC Primary source HGNC:HGNC:26527 See related Ensembl:ENSG00000165102 MIM:610453; AllianceGenome:HGNC:26527 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RP73; HGNAT; MPS3C; TMEM76 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] Expression Ubiquitous expression in skin (RPKM 11.5), gall bladder (RPKM 11.3) and 25 other tissues See more Orthologs mouse all