Reaction: Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S
- in pathway: MPS IIID - Sanfilippo syndrome D
Due to the rarity of this disease, only approximately 20 mutations had been described. Recently a study by Valstar et al. revealed 15 of those mutations (Valstar et al. 2010). The group also conducted a literature survey of MPS IIID (MIM:252940). Mutations include R355X (Mok et al. 2003), Q390X (Jansen et al. 2007), Q272X (Beesley et al. 2007) and S94I (Valstar et al. 2010). Other mutations are not detailed here but can be referenced in the Valstar et al. review (Valstar et al. 2010).
Reaction - small molecule participants:
H2O [lysosomal lumen]
GlcNAc(S)-Gal-GlcNAc(S)-Gal [lysosomal lumen]
Reactome.org reaction link: R-HSA-2263495
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Reaction input - small molecules:
water
beta-D-GlcpNAc6S-(1->3)-beta-D-Galp-(1->4)-beta-D-GlcpNAc6S-(1->3)-D-Galp
Reaction output - small molecules:
Reactome.org link: R-HSA-2263495