Anti-NAGLU Antibody Picoband® Biotin Conjugated

N-acetylglucosaminidase, alpha is a protein that in humans is encoded by the NAGLU gene. 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.

NAGLU; UFHSD1; Alpha-N-acetylglucosaminidase; EC 3.2.1.50; N-acetyl-alpha-glucosaminidase; NAG [Cleaved into: Alpha-N-acetylglucosaminidase 82 kDa form; Alpha-N-acetylglucosaminidase 77 kDa form]

1. Beesley, C. E., Young, E. P., Vellodi, A., Winchester, B. G. Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB) . J. Med. Genet. 35: 910-914, 1998. 2. Bunge, S., Knigge, A., Steglich, C., Kleijer, W. J., van Diggelen, O. P., Beck, M., Gal, A. Mucopolysaccharidosis type IIIB (Sanfilippo B) : identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. J. Med. Genet. 36: 28-31, 1999. 3. Chinen, Y., Tohma, T., Izumikawa, Y., Uehara, H., Ohta, T. Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. J. Hum. Genet. 50: 357-359, 2005.