Involved in the degradation of heparan sulfate.
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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 22.214.171.124; Glycan Metabolism - glycosaminoglycan degradation; Hydrolase
Chromosomal Location of Human Ortholog: 17q21
Cellular Component: lysosomal lumen; lysosome
Molecular Function: alpha-N-acetylglucosaminidase activity
Biological Process: glycosaminoglycan catabolic process; nervous system development
Disease: Charcot-marie-tooth Disease, Axonal, Type 2v; Mucopolysaccharidosis, Type Iiib