Gene Symbol | ST3GAL5 |
Entrez Gene ID | 8869 |
Full Name | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 |
Synonyms | SATI,SIAT9,SIATGM3S,SPDRS,ST3Gal V,ST3GalV |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Salt and pepper developmental regression syndrome, 609056 (3) |