Literature summary for 3.2.1.50 extracted from

Chinen, Y.; Tohma, T.; Izumikawa, Y.; Uehara, H.; Ohta, T.
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan (2005), J. Hum. Genet., 50, 357-359.

Search for more literature for 3.2.1.50

Cloned(Commentary)

Cloned (Comment)	Organism
DNA and amino acid sequence determination of Sanfilippo type B syndrome patients	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
R565P	naturally occurring mutation, five patients with the homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan show the Sanfilippo type B syndrome, heterozygotes show no phenotype	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
lysosome	-	Homo sapiens	5764	-

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	enzyme deficiency causes the Sanfilippo type B syndrome, i.e. the mucopolysaccharidosis type IIIB, a lysosomal storage disorder, phenotype, overview	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	enzyme deficiency causes the Sanfilippo type B syndrome, i.e. the mucopolysaccharidosis type IIIB, a lysosomal storage disorder, phenotype, overview	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
NAGLU	-	Homo sapiens

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Release 2023.1 (January 2023)