Gene: ST3GAL5-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: ST3GAL5

Alternate names for this Gene: SATI|SIAT9|SIATGM3S|SPDRS|ST3Gal V|ST3GalV

Gene 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p11.2

Description of this Gene: ST3 beta-galactoside alpha-2,3-sialyltransferase 5

Type of Gene: protein-coding

rs878854615 in ST3GAL5-AS1;ST3GAL5 gene and Amish Infantile Epilepsy Syndrome PMID 15502825 2004 Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

PMID 27232954 2016 GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.

PMID 22990144 2013 Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.

rs57339844 in ST3GAL5-AS1;ST3GAL5 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.