Cloned (Comment) | Organism |
---|---|
NAGLU-encoding gene, located on chromosome 17q21.1, DNA and amino acid sequence determination and analysis, genotyping | Homo sapiens |
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 | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Homo sapiens | 5764 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
NAGLU | - |
Homo sapiens |
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 |