Cloned (Comment) | Organism |
---|---|
DNA and amino acid sequence determination of Sanfilippo type B syndrome patients | Homo sapiens |
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 | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Homo sapiens | 5764 | - |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
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 | Comment | Organism |
---|---|---|
NAGLU | - |
Homo sapiens |