NAGLU 抗体
(N-Acetylglucosaminidase, alpha (NAGLU))
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].
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Aliases for NAGLU 抗体
N-acetylglucosaminidase, alpha (naglu) 抗体N-acetyl-alpha-glucosaminidase (NAGLU) 抗体
alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) (Naglu) 抗体
MPS-IIIB 抗体
MPS3B 抗体
NAG 抗体
UFHSD 抗体
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