HGSNAT Anticuerpo(K-15): sc-82623

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HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase), also known as HGNAT, MPS3C or TMEM76, is a 663 amino acid multi-pass membrane protein that localizes to the lysosome and is expressed in a wide variety of tissues, including liver, lung, placenta, heart and skeletal muscle. Functioning as a lysosomal acetyltransferase, HGSNAT acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, effectively producing a substrate for luminal alpha-N-acetyl glucosaminidase. Defects in the gene encoding HGSNAT are the cause of mucopolysaccharidosis type 3C (MPS3C), an autosomal recessive lysosomal storage disease that is caused by impaired heparan sulfate degradation and is characterized by degeneration of the central nervous system.