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Literature summary extracted from

  • Beesley, C.E.; Burke, D.; Jackson, M.; Vellodi, A.; Winchester, B.G.; Young, E.P.
    Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene (2003), J. Med. Genet., 40, 192-194.
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
3.1.6.14 medicine defect in enzyme function leads to mucopolysaccharidosis type IIID, i.e. Sanfilippo syndrome Type D Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
3.1.6.14 additional information Homo sapiens involved in catabolism of heparan sulfate ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
3.1.6.14 Homo sapiens
-
 patient with a single base pair deletion which causes a frameshift and premature termination of the protein
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.1.6.14 fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.1.6.14 additional information involved in catabolism of heparan sulfate Homo sapiens ?
-
 ?
3.1.6.14 N-acetyl-D-glucosamine 6-sulfate + H2O in heparan Homo sapiens N-acetyl-D-glucosamine + sulfate
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.1.6.14 G6S
-
 Homo sapiens