Entrez gene ID | | 138050 |
Official gene symbol | | HGSNAT |
Full name | | heparan-alpha-glucosaminide N-acetyltransferase |
Aliases | | ,DKFZp686G24175,FLJ22242,FLJ32731,HGNAT,MPS3C,TMEM76, |
Gene 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] |
Location | | Chromosome: 8 Locus: 8p11.1 |
Gene position | | 42995592 - 43057970 Map Viewer |
Gene orientation | | plus |
Gene size | | 62379 bp |
Gene sequence |
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OMIM ID | | 610453 |
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