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],
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Function:
Catalytic activity:CMP-N-acetylneuraminate + beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = CMP + alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide.,Disease:Defects in ST3GAL5 are the cause of Amish infantile epilepsy syndrome (AIES) [MIM:609056]. AIES is an autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness.,Function:Catalyzes the formation of ganglioside GM3 (alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D-glucosylceramide).,online information:GlycoGene database,online information:ST3Gal V,PTM:N-glycosylated.,similarity:Belongs to the glycosyltransferase 29 family.,tissue specificity:Ubiquitous. High expression in brain, skeletal muscle, placenta, and testis.,
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Cellular Localization:
Golgi apparatus membrane ; Single-pass type II membrane protein .
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Tissue Expression:
Ubiquitous. High expression in brain, skeletal muscle, placenta, and testis. mRNA widely distributed in human brain, but slightly elevated expression was observed in the cerebral cortex, temporal lobe, and putamen.
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Research Areas:
>>Glycosphingolipid biosynthesis - ganglio series ;
>>Metabolic pathways