Aliases for B3GALTL Gene
External Ids for B3GALTL Gene
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]
GeneCards Summary for B3GALTL Gene
B3GALTL (Beta 1,3-Galactosyltransferase-Like) is a Protein Coding gene. Diseases associated with B3GALTL include peters anomaly. Among its related pathways are Other types of O-glycan biosynthesis. GO annotations related to this gene include transferase activity, transferring glycosyl groups.
UniProtKB/Swiss-Prot for B3GALTL Gene
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.