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Immunogen sequence: QALLLIHNEL LWTNLTVYWK SECCYHCLFQ VLVNVPQSPK AGKPSAAAAS VSTQHGSILQ LNDTLEEKEV CRLEYRFGEF GNYSLLVKNI HNGVSEIACD LAVN
Highest antigen sequence identity to the following orthologs: Mouse - 67%, Rat - 23%.
This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Heparan-alpha-glucosaminide N-acetyltransferase; Transmembrane protein 76
Gene Aliases: HGNAT; HGSNAT; MPS3C; RP73; TMEM76
UniProt ID: (Human) Q68CP4
Entrez Gene ID: (Human) 138050
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