AAB88084.1
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NCBI Official Full Name
Naglu
NCBI Official Synonym Full Names
alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)
NCBI Protein Information
alpha-N-acetylglucosaminidase; N-acetyl-glucosaminidase; alpha-N-acetylglucosaminidase, lysosomal
UniProt Comments for NAGLU
NAGLU: Involved in the degradation of heparan sulfate. Defects in NAGLU are the cause of mucopolysaccharidosis type 3B (MPS3B); also known as Sanfilippo syndrome B. MPS3B is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.
Protein type: EC 3.2.1.50; Hydrolase; Glycan Metabolism - glycosaminoglycan degradation
Molecular Function: alpha-N-acetylglucosaminidase activity
Biological Process: locomotor rhythm; retinal rod cell development; inner ear receptor cell development; lysosome organization and biogenesis; cerebellar Purkinje cell layer development; middle ear morphogenesis
Research Articles on NAGLU
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Pathways associated with NAGLU elisa kit
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