Gene Symbol | B3GALT6 |
Entrez Gene ID | 126792 |
Full Name | beta-1,3-galactosyltransferase 6 |
Synonyms | EDSP2,EDSSPD2,SEMDJL1,beta3GalT6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]. COMPLETENESS: complete on the 3' end. |
Disorder MIM: | |
Disorder Html: | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3); Ehlers-Danlos syndrome, progeroid type, 2, 615349 (3) |