N-acetylglucosaminidase, alpha is a
protein that in humans is encoded by the NAGLU
gene.[5]
Function
This gene encodes an enzyme that degrades
heparan sulfate by hydrolysis of terminal
N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides.
Clinical significance
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.[5]
Winder-Rhodes SE, Garcia-Reitböck P, Ban M, Evans JR, Jacques TS, Kemppinen A, Foltynie T, Williams-Gray CH, Chinnery PF, Hudson G, Burn DJ, Allcock LM, Sawcer SJ, Barker RA, Spillantini MG (February 2012). "Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome". Movement Disorders. 27 (2): 312–5.
doi:
10.1002/mds.24029.
PMID22102531.
S2CID4834914.
Sasaki T, Sukegawa K, Masue M, Fukuda S, Tomatsu S, Orii T (November 1991). "Purification and partial characterization of alpha-N-acetylglucosaminidase from human liver". Journal of Biochemistry. 110 (5): 842–6.
doi:
10.1093/oxfordjournals.jbchem.a123668.
PMID1783617.
Vance JM, Pericak-Vance MA, Elston RC, Conneally PM, Namboodiri KK, Wappner RS, Yu PL (1980). "Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism". American Journal of Medical Genetics. 7 (2): 131–40.
doi:
10.1002/ajmg.1320070207.
PMID6781343.
N-acetylglucosaminidase, alpha is a
protein that in humans is encoded by the NAGLU
gene.[5]
Function
This gene encodes an enzyme that degrades
heparan sulfate by hydrolysis of terminal
N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides.
Clinical significance
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.[5]
Winder-Rhodes SE, Garcia-Reitböck P, Ban M, Evans JR, Jacques TS, Kemppinen A, Foltynie T, Williams-Gray CH, Chinnery PF, Hudson G, Burn DJ, Allcock LM, Sawcer SJ, Barker RA, Spillantini MG (February 2012). "Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome". Movement Disorders. 27 (2): 312–5.
doi:
10.1002/mds.24029.
PMID22102531.
S2CID4834914.
Sasaki T, Sukegawa K, Masue M, Fukuda S, Tomatsu S, Orii T (November 1991). "Purification and partial characterization of alpha-N-acetylglucosaminidase from human liver". Journal of Biochemistry. 110 (5): 842–6.
doi:
10.1093/oxfordjournals.jbchem.a123668.
PMID1783617.
Vance JM, Pericak-Vance MA, Elston RC, Conneally PM, Namboodiri KK, Wappner RS, Yu PL (1980). "Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism". American Journal of Medical Genetics. 7 (2): 131–40.
doi:
10.1002/ajmg.1320070207.
PMID6781343.