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Literature summary for 3.1.6.12 extracted from

  • Munoz-Rojas, M.V.; Horovitz, D.D.; Jardim, L.B.; Raymundo, M.; Llerena, J.C.; de Magalhaes, T.d.e..S.; Vieira, T.A.; Costa, R.; Kakkis, E.; Giugliani, R.
    Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis (2010), Mol. Genet. Metab., 99, 346-350.
    View publication on PubMed
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Application

Application Comment Organism
medicine intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis, overview 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

Synonyms

Synonyms Comment Organism
arylsulfatase B
-
 Homo sapiens
ASB
-
 Homo sapiens
N-acetylgalactosamine 4-sulfatase
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction mucopolysaccharidosis VI, MPS VI or Maroteaux-Lamy syndrome, is an inherited metabolic disease caused by the deficiency of N-acetylgalactosamine 4-sulfatase. In the absence of this enzyme, the stepwise degradation of the glycosaminoglycan dermatan sulfate is blocked, resulting in intracellular accumulation of the substrate into the lysosomes, leading to a progressive disorder with multiple organ and tissue involvement Homo sapiens