Gene: ST3GAL3

Alternate names for this Gene: DEE15|EIEE15|MRT12|SIAT6|ST3GALII|ST3Gal III|ST3GalIII|ST3N

Gene Summary: The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.1

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

Type of Gene: protein-coding

rs3011225 in ST3GAL3 gene and Amyotrophic Lateral Sclerosis PMID 22959728 2013 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

rs12040333 in ST3GAL3 gene and Calcification of coronary artery PMID 29221444 2017 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes.

rs11210927 in ST3GAL3 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs12040333 in ST3GAL3 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29221444 2017 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes.

rs11577684 in ST3GAL3 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29186694 2017 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.

rs387906943 in ST3GAL3 gene and MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 PMID 21907012 2011 ST3GAL3 mutations impair the development of higher cognitive functions.