Defective B3GALTL causes Peters-plus syndrome (PpS)

Stable Identifier
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).

Literature References
PubMed ID Title Journal Year
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
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
Participant Of
Name Identifier Synonyms
orofacial cleft 0050567
eye disease 5614 eye infection, eye infection (disorder), eye infection