Aliases for ST3GAL5 Gene
External Ids for ST3GAL5 Gene
Previous HGNC Symbols for ST3GAL5 Gene
Previous GeneCards Identifiers for ST3GAL5 Gene
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]
GeneCards Summary for ST3GAL5 Gene
ST3GAL5 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5) is a Protein Coding gene. Diseases associated with ST3GAL5 include Amish Infantile Epilepsy Syndrome and Salt And Pepper Syndrome. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Glycosphingolipid biosynthesis - ganglio series. GO annotations related to this gene include sialyltransferase activity and lactosylceramide alpha-2,3-sialyltransferase activity. An important paralog of this gene is ST3GAL3.
UniProtKB/Swiss-Prot for ST3GAL5 Gene
Catalyzes the formation of ganglioside GM3 (alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D-glucosylceramide).