Defective B3GALTL does not transfer glucose to O-fucosyl-proteins

Stable Identifier
Reaction [transition]
Homo sapiens
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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).

Literature References
PubMed ID Title Journal Year
23889335 Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

Weh, E, Reis, LM, Tyler, RC, Bick, D, Rhead, WJ, Wallace, S, McGregor, TL, Dills, SK, Chao, MC, Murray, JC, Semina, EV

Clin. Genet. 2014
19796186 Novel B3GALTL mutation in Peters-plus Syndrome

Dassie-Ajdid, J, Causse, A, Poidvin, A, Granier, M, Kaplan, J, Burglen, L, Doummar, D, Teisseire, P, Vigouroux, A, Malecaze, F, Calvas, P, Chassaing, N

Clin. Genet. 2009
25544610 Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism

Vasudevan, D, Takeuchi, H, Johar, SS, Majerus, E, Haltiwanger, RS

Curr. Biol. 2015
18720094 Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats

Heinonen, TY, Maki, M

Ann. Med. 2009
Participant Of
Catalyst Activity
Catalyst Activity
transferase activity, transferring glycosyl groups of B3GALTL G393E [endoplasmic reticulum membrane]
Physical Entity
Normal reaction
Name Identifier Synonyms
orofacial cleft 0050567
eye disease 5614 eye infection, eye infection (disorder), eye infection
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