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Literature summary for 3.2.1.50 extracted from

  • Champion, K.J.; Basehore, M.J.; Wood, T.; Destree, A.; Vannuffel, P.; Maystadt, I.
    Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB) (2010), Mol. Genet. Metab., 100, 51-56.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
NAGLU-encoding gene, located on chromosome 17q21.1, DNA and amino acid sequence determination and analysis, genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information NAGLU-encoding gene: geneotyping and identification of a large homozygous intragenic deletion mutation in the alpha-N-acetylglucosaminidase gene, causing enzyme deficiency, involved in the autosomal recessive disease Sanfilippo type B syndrome, i.e. mucopolysaccharidosis IIIB, in a Turkish patient, phenotype,overview Homo sapiens

Localization

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
NAGLU
-
Homo sapiens

General Information

General Information Comment Organism
malfunction a large homozygous intragenic deletion in the alpha-N-acetylglucosaminidase gene, causing enzyme deficiency, is involved in the autosomal recessive disease Sanfilippo type B syndrome, i.e. mucopolysaccharidosis IIIB, in an affected child of consanguineous parents Homo sapiens