heparan-alpha-glucosaminide N-acetyltransferase (transmembrane protein 76, HGSNAT, TMEM76)

Function

• lysosomal acetyltransferase
• acetylates nonreducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase

Acetyl-CoA + heparan sulfate alpha-D-glucosaminide <--> CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide

Compartment

lysosome membrane

Expression

• widely expressed
• highest levels in leukocytes, heart, liver, skeletal muscle, lung, placenta & liver

Pathology

• defects in HGSNAT are the cause of mucopolysaccharidosis 3C

More general terms

• acyltransferase
• transmembrane 11e protein

Database

• OMIM: https://mirror.omim.org/entry/252930
• UniProt: http://www.uniprot.org/uniprot/Q68CP4.html