Literature summary for 3.1.6.14 extracted from

Jansen, A.C.; Cao, H.; Kaplan, P.; Silver, K.; Leonard, G.; De Meirleir, L.; Lissens, W.; Liebaers, I.; Veilleux, M.; Andermann, F.; Hegele, R.A.; Andermann, E.
Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene (2007), Arch. Neurol., 64, 1629-1634.

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Protein Variants

Protein Variants	Comment	Organism
additional information	mutation of glutamine 390 to stop-codon causes Mucopolysaccharidosis type IIID	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P15586	precursor	-

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 degradation of heparan sulfate, causing Mucopolysaccharidosis type IIID	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
N-acetylglucosamine-6-sulfatase	-	Homo sapiens

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Release 2023.1 (January 2023)