Reaction: Defective B3GALTL does not transfer glucose to O-fucosyl-proteins
- in pathway: Defective B3GALTL causes PpS
Human beta-1,3-glucosyltransferase-like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resultant glc-beta-1,3-fuc disaccharide modification on thrombospondin type 1 repeat (TSR1) domain-containing proteins is thought to assist in the secretion of many of these proteins from the ER lumen, and mediate an ER quality-control mechanism of folded TSRs (Vasudevan et al. 2015). Defects in B3GALTL can cause Peters plus syndrome (PpS; MIM:261540), an autosomal recessive disorder characterised by anterior eye chamber defects, short stature, delay in growth and mental developmental and cleft lip and/or palate (Heinonen & Maki 2009). More than 10 mutations in B3GALTL causing PsP are known (Weh et al. 2014) including the missense mutation G393E (Dassie Ajdid et al. 2009).
Reaction - small molecule participants:
UDP-D-glucose(2-) [endoplasmic reticulum lumen]
Reactome.org reaction link: R-HSA-6785565
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Reaction input - small molecules:
UDP-D-glucose(2-)
Reaction output - small molecules:
Reactome.org link: R-HSA-6785565