InterPro domain: IPR012429

This entry represents the catalytic domain of HGSNAT which contains the conserved histidine in the active site (His269), thought to hold the acetyl group during the transfer across the membrane and required for its enzymatic activity [ 1 ].

Heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT) catalyzes the transmembrane acetylation of heparan sulfate in lysosomes required for its further catabolism. Mutations of the HGSNAT gene cause the neurodegenerative disease mucopolysaccharidosis IIIC (MPS IIIC) [ 2 ].

1. Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC. J. Biol. Chem. 285, 31233-42