Immunogen sequence: LQGWLFQHQP QFWGPAQIRA VLGAVPRGRL LVLDLFAESQ PVYTRTASFQ GQPFIWCMLH NFGGNHGLFG ALEAVNGGPE AARLFPNSTM VGTGMAPEGI SQNEVVYSLM A
Highest antigen sequence identity to the following orthologs: Mouse - 89%, Rat - 89%.
This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate.
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Protein Aliases: Alpha-N-acetylglucosaminidase; Alpha-N-acetylglucosaminidase 77 kDa form; Alpha-N-acetylglucosaminidase 82 kDa form; alpha-N-acetylglucosaminidase, lysosomal; MPS-IIIB; MPS3B; N-acetyl-alpha-glucosaminidase; N-acetyl-glucosaminidase; N-acetylglucosaminidase, alpha; NAG; testicular tissue protein Li 18; UFHSD
Gene Aliases: CMT2V; MPS-IIIB; MPS3B; NAG; NAGLU; UFHSD; UFHSD1
UniProt ID: (Human) P54802