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Defective B3GALTL causes Peters-plus syndrome (PpS)

Stable Identifier
R-HSA-5083635
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

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).

Participants
Participant Of
Disease
Name Identifier Synonyms
orofacial cleft 0050567
eye disease 5614 eye infection, eye infection (disorder), eye infection