ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5 (ST3GAL5) Human Recombinant Protein

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]

ST3GAL5: Catalyzes the formation of ganglioside GM3 (alpha-N- acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D- glucosylceramide). Defects in ST3GAL5 are the cause of Amish infantile epilepsy syndrome (AIES). AIES is an autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness. Belongs to the glycosyltransferase 29 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series; EC 2.4.99.9; Transferase

Chromosomal Location of Human Ortholog: 2p11.2

Cellular Component: Golgi membrane; integral to plasma membrane; integral to membrane; integral to Golgi membrane

Molecular Function: lactosylceramide alpha-2,3-sialyltransferase activity; neolactotetraosylceramide alpha-2,3-sialyltransferase activity; sialyltransferase activity

Biological Process: cellular protein metabolic process; glycosphingolipid biosynthetic process; dolichol-linked oligosaccharide biosynthetic process; carbohydrate metabolic process; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification; ganglioside biosynthetic process

Disease: Amish Infantile Epilepsy Syndrome