Gene Symbol | B3GLCT |
Entrez Gene ID | 145173 |
Full Name | beta 3-glucosyltransferase |
Synonyms | B3GALTL,B3GTL,B3Glc-T,Gal-T,beta3Glc-T |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Peters-plus syndrome, 261540 (3) |