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]
Function:
Involved in the degradation of heparan sulfate.
Subcellular Location:
Lysosome.
Tissue Specificity:
Liver, ovary, peripheral blood leukocytes, testis, prostate, spleen, colon, lung, placenta and kidney.
DISEASE:
Defects in NAGLU are the cause of mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]; 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.
SWISS:
P5962
Gene ID:
4669
Database links:
Entrez Gene: 4669 Human
Entrez Gene: 789125 Cow
Entrez Gene: 27419 Mouse
Omim: 609701 Human
SwissProt: P5962 Human
Unigene: 50727 Human
Unigene: 95452 Mouse
|
|
