Gene Symbol | NAGLU |
Entrez Gene ID | 4669 |
Full Name | N-acetyl-alpha-glucosaminidase |
Synonyms | CMT2V,MPS-IIIB,MPS3B,NAG,UFHSD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3); ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3) |