HGSNAT wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HGSNAT wild-type allele is located within 8p11.21-p11.1 and is approximately 62 kb in length. This allele, which encodes heparan-alpha-glucosaminide N-acetyltransferase protein, plays a role in the lysosomal processing and degradation of heparan sulfate. Loss of function mutations in the gene are associated with mucopolysaccharidosis IIIC (Sanfilippo syndrome C).

**Synonyms:** - FLJ32731 - HGNAT - Heparan-Alpha-Glucosaminide N-Acetyltransferase wt Allele - MPS3C - RP73 - TMEM76 - Transmembrane Protein 76 Gene