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Protein Page:
HGSNAT (human)

HGSNAT Lysosomal acetyltransferase that acetylates the non- reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase. Defects in HGSNAT are the cause of mucopolysaccharidosis type 3C (MPS3C); also known as Sanfilippo C syndrome. MPS3C is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. 2 isoforms of the human protein are produced by alternative initiation. Note: This description may include information from UniProtKB.
Protein type: Acetyltransferase; EC; Glycan Metabolism - glycosaminoglycan degradation; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 8p11.1
Cellular Component: lysosomal membrane
Molecular Function: transferase activity, transferring acyl groups
Biological Process: glycosaminoglycan catabolic process; lysosomal transport; protein oligomerization
Disease: Mucopolysaccharidosis, Type Iiic; Retinitis Pigmentosa 73
Reference #:  Q68CP4 (UniProtKB)
Alt. Names/Synonyms: DKFZp686G24175; FLJ22242; FLJ32731; Heparan-alpha-glucosaminide N-acetyltransferase; HGNAT; HGSNAT; MPS3C; TMEM76; Transmembrane protein 76
Gene Symbols: HGSNAT
Molecular weight: 73,293 Da
Basal Isoelectric point: 8.69  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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