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Literature summary for 3.1.6.14 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
Search for more literature for 3.1.6.14

Application

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

Natural Substrates/ Products (Substrates)

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

Organism

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

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
G6S
-
 Homo sapiens