Gene Symbol | HGSNAT |
Entrez Gene ID | 138050 |
Full Name | heparan-alpha-glucosaminide N-acetyltransferase |
Synonyms | HGNAT,MPS3C,RP73,TMEM76 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3); Retinitis pigmentosa 73, 616544 (3) |