B3GALTL Antibody – Rabbit Polyclonal

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]

B3GALTL: O-fucosyltransferase 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. Defects in B3GALTL are the cause of Peters-plus syndrome (PpS). PpS is an autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate. Belongs to the glycosyltransferase 31 family.

Protein type: Transferase; EC 2.4.1.-; Membrane protein, integral

Chromosomal Location of Human Ortholog: 13q12.3

Cellular Component: endoplasmic reticulum membrane; integral to membrane

Molecular Function: transferase activity, transferring glycosyl groups

Biological Process: fucose metabolic process; protein amino acid O-linked glycosylation; cellular protein metabolic process; post-translational protein modification

Disease: Peters-plus Syndrome