Gene information for NAGLU (Homo sapiens)
(Information is obtained from NCBI Gene database) |
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: |
Gene position | 40687951 - 40696467 Map Viewer |
OMIM ID | 609701 |