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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Heparan-alpha-glucosaminide N-acetyltransferase; Transmembrane protein 76
基因别名: HGNAT; HGSNAT; MPS3C; RP73; TMEM76
UniProt ID: (Human) Q68CP4
Entrez Gene ID: (Human) 138050