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Literature summary for 3.1.6.12 extracted from

  • Villani, G.R.; Grosso, M.; Pontarelli, G.; Chierchia, A.; Sessa, R.; Sibilio, M.; Parenti, G.; Di Natale, P.
    Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient (2010), Genet. Test. Mol. Biomarkers, 14, 113-120.
    View publication on PubMed
Search for more literature for 3.1.6.12

Cloned(Commentary)

Cloned (Comment) Organism
ARSB, genotyping of wild-type and mutants Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information a large deletion, c.899-1142del, e.iminates the whole exon5, the large deletion mutation g.99367-102002del involves exon 5 and parts of introns 4 and 5 of the arylsulfatase B gene leading to a frameshift and causing apparent homozygosity in a mucopolysaccharidosis type VI patient Homo sapiens
R315X a narturally occuring mutationiin exon 5 of the ARSB gene causing reduced enzyme activity Homo sapiens

Localization

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
ARSB
-
 Homo sapiens
arylsulfatase B
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction ARSB mutations are involved in mucopolysaccharidosis type VI, i.e. MPS VI, Maroteaux-Lamy syndrome Homo sapiens