Reaction: Defective GALNS does not hydrolyse sulfate from Gal6S in keratan sulfate
- in pathway: MPS IV - Morquio syndrome A
From a recent review of mutations for MPSIVA (MIM:253000) (Tomatsu et al. 2005), almost 80% of mutations in N-acetylgalactosamine 6-sulfatase (GALNS; MIM:612222) were missense mutations and of these, the most common ones are R386C, G301C and I113F.
Reaction - small molecule participants:
Gal(S)-GlcNAc(S)-Gal-GlcNAc(S)-Gal [lysosomal lumen]
H2O [lysosomal lumen]
Reactome.org reaction link: R-HSA-2263490
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Reaction input - small molecules:
beta-D-Galp6S-(1->4)-beta-D-GlcpNAc6S-(1->3)-beta-D-Galp-(1->4)-beta-D-GlcpNAc6S-(1->3)-D-Galp
water
Reaction output - small molecules:
Reactome.org link: R-HSA-2263490