Defective B3GALTL causes Peters-plus syndrome (PpS)

Stable Identifier
R-HSA-5083635
Type
Pathway
Species
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
Participants
Participates
Disease
Name Identifier Synonyms
orofacial cleft DOID:0050567
eye disease DOID:5614 eye infection, eye infection (disorder), eye infection
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