NAGLU wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human NAGLU wild-type allele is located in the vicinity of 17q21.2 and is approximately 8 kb in length. This allele, which encodes alpha-N-acetylglucosaminidase protein, is involved in the catabolism of heparan sulfate. Mutations in the gene are associated with axonal Charcot-Marie-Tooth disease type 2V and mucopolysaccharidosis type IIIB (Sanfilippo B).

**Synonyms:** - CMT2V - MPS-IIIB - MPS3B - N-Acetyl-Alpha-D-Glucosaminidase Gene - N-Acetyl-Alpha-Glucosaminidase wt Allele - N-Acetylglucosaminidase, Alpha Gene - N-Acetylglucosaminidase, Alpha- Gene - NAG - Sanfilippo Disease IIIB Gene - UFHSD - UFHSD1