B3GLCT

The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]

Full Name

Beta 3-Glucosyltransferase

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.

Biological Process

Fucose metabolic process Source: UniProtKB-KW
Protein O-linked fucosylation Source: Reactome

Cellular Location

Endoplasmic reticulum membrane

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.

Topology

Cytoplasmic: 1-6 aa
Helical: 7-27 aa
Lumenal: 28-498 aa