Species Human Entrez 4669 | Human Mouse Ensembl ENSG00000108784 | |
Aliases NAGLU, MPS-IIIB, MPS3B, NAG, UFHSD, CMT2V, N-acetyl-alpha-glucosaminidase External IDs MGI: 1351641 HomoloGene: 222 GeneCards: NAGLU | ||
N-acetylglucosaminidase, alpha is a protein that in humans is encoded by the NAGLU gene.
Contents
Function
This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides.
Clinical significance
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.
References
NAGLU Wikipedia(Text) CC BY-SA