NAGLU, Official Symbol NAGLUprovided by HGNC Official Full Name N-acetyl-alpha-glucosaminidaseprovided by HGNC Primary source HGNC:HGNC:7632 See related Ensembl:ENSG00000108784 MIM:609701; AllianceGenome:HGNC:7632 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NAG; CMT2V; MPS3B; UFHSD; MPS-IIIB 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, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 14.8), fat (RPKM 12.3) and 25 other tissues See more Orthologs mouse all