" /> HGSNAT wt Allele - CISMeF





Preferred Label : HGSNAT wt Allele;

NCIt synonyms : FLJ32731; Transmembrane Protein 76 Gene; RP73; Heparan-Alpha-Glucosaminide N-Acetyltransferase wt Allele; MPS3C; TMEM76; HGNAT;

NCIt 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).;

GenBank Accession Number : NM_152419;

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29/07/2025


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