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Protein Domain : Heparan-alpha-glucosaminide N-acetyltransferase, catalytic domain

Primary Identifier  IPR012429 Type  Domain
Short Name  HGSNAT_cat
description  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) [].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 [].

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1 Protein Domain Regions