B3GLCT
Function
O-glucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan.
Involvement in disease
Peters-plus syndrome
PTRPLS
An autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein glycosylation.
Sequence Similarities
Belongs to the glycosyltransferase 31 family.
Tissue Specificity
Widely expressed, with highest levels in testis and uterus.
Cellular localization
- Endoplasmic reticulum membrane
- Single-pass type II membrane protein
Alternative names
B3GALTL, B3GTL, B3GLCT, Beta3Glc-T, Beta 3-glucosyltransferase, Beta-3-glycosyltransferase-like