NP_000254.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
Molecular Weight
82,266 Da
NCBI Official Full Name
alpha-N-acetylglucosaminidase
NCBI Official Synonym Full Names
N-acetyl-alpha-glucosaminidase
NCBI Official Synonym Symbols
NAG; CMT2V; MPS3B; UFHSD; MPS-IIIB [Similar Products]
NCBI Protein Information
alpha-N-acetylglucosaminidase
UniProt Protein Name
Alpha-N-acetylglucosaminidase
UniProt Synonym Protein Names
N-acetyl-alpha-glucosaminidase; NAG
UniProt Synonym Gene Names
UniProt Entry Name
ANAG_HUMAN
NCBI Summary for 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]
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: Glycan Metabolism - glycosaminoglycan degradation; Hydrolase; EC 3.2.1.50
Chromosomal Location of Human Ortholog: 17q21
Cellular Component: lysosomal lumen; lysosome
Molecular Function: alpha-N-acetylglucosaminidase activity
Biological Process: carbohydrate metabolic process; cerebellar Purkinje cell layer development; glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; inner ear receptor cell development; locomotor rhythm; lysosome organization and biogenesis; middle ear morphogenesis; nervous system development; retinal rod cell development
Disease: Charcot-marie-tooth Disease, Axonal, Type 2v; Mucopolysaccharidosis, Type Iiib
Research Articles on NAGLU
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Products associated with NAGLU elisa kit
Pathways associated with NAGLU elisa kit
Diseases associated with NAGLU elisa kit
Organs/Tissues associated with NAGLU elisa kit
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