Gene Symbol | B3GAT3 |
Entrez Gene ID | 26229 |
Full Name | beta-1,3-glucuronyltransferase 3 |
Synonyms | GLCATI,JDSCD,glcUAT-I |
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 member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]. |
Disorder MIM: | |
Disorder Html: | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (3) |