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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. Note: This description may include information from UniProtKB.
Protein type: EC 2.4.1.-; Membrane protein, integral; Transferase
Chromosomal Location of Human Ortholog: 13q12.3
Cellular Component: endoplasmic reticulum membrane
Molecular Function: transferase activity, transferring glycosyl groups
Disease: Peters-plus Syndrome
Reference #:  Q6Y288 (UniProtKB)
Alt. Names/Synonyms: B3GALTL; B3Glc-T; B3GLCT; B3GLT; B3GTL; beta 1,3-galactosyltransferase-like; beta 3-glycosyltransferase-like; Beta-1,3-glucosyltransferase; Beta-3-glycosyltransferase-like; Beta3Glc-T; Gal-T; UDP-GAL:beta-GlcNAc beta-1,3-galactosyltransferase-like
Gene Symbols: B3GLCT
Molecular weight: 56,564 Da
Basal Isoelectric point: 7.23  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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