Aliases for B3GLCT Gene
External Ids for B3GLCT Gene
Previous HGNC Symbols for B3GLCT 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 B3GLCT Gene
B3GLCT (Beta 3-Glucosyltransferase) is a Protein Coding gene. Diseases associated with B3GLCT include Peters Anomaly and Corneal Staphyloma. Among its related pathways are O-glycosylation of TSR domain-containing proteins and O-linked glycosylation. An important paralog of this gene is C1GALT1.
UniProtKB/Swiss-Prot for B3GLCT Gene
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.