Entrez gene ID | | 4669 |
Official gene symbol | | NAGLU |
Full name | | N-acetylglucosaminidase, alpha- |
Aliases | | ,MPS-IIIB,MPS3B,NAG,UFHSD, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 17 Locus: 17q21 |
Gene position | | 40687951 - 40696467 Map Viewer |
Gene orientation | | plus |
Gene size | | 8517 bp |
Gene sequence |
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OMIM ID | | 609701 |