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NAGLU is 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.
Gene Name: | N-acetylglucosaminidase, alpha |
Synonyms: | NAGLU, Alpha-N-acetylglucosaminidase, MPS3B, NAG, MPS-IIIB, N-acetyl-alpha-glucosaminidase, UFHSD, N-acetylglucosaminidase, alpha, UFHSD1 |
Target Sequences: | NM_000263 NP_000254.2 P54802 |
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