Mucopolysaccharidosis IIIC

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The HGSNAT gene at 8p11.21 codes for heparan-alpha-glucosaminide N-acetyltransferase.

Mutations cause mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo syndrome type C), explaining up to 1/500,000 of the incidence of the mucopolysaccharidosis III phenotype. Heparan-alpha-glucosaminide N-acetyltransferase catalyses an essential step in the breakdown of heparan sulfate.

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