LongevityMap Gene

Gene details

HGNC symbol
ST3GAL3 
Aliases
ST3N; MRT12; SIAT6; EIEE15; ST3GALII; ST3GalIII 
Common name
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 
Description
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 autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
Cytogenetic Location
1p34.1
UCSC Genome Browser
View 1p34.1 on the UCSC genome browser
OMIM
606494
Ensembl
ENSG00000126091
UniProt/Swiss-Prot
B4DX62_HUMAN
Entrez Gene
6487
UniGene
597915
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
st3gal3a
Mus musculus
St3gal3
Rattus norvegicus
St3gal3

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
European
Study Design
Meta-analysis of genome-wide association studies of survival and survival free of major disease or death. In total, there were 25,007 participants over 55 years of age and followed-up for over 10 years for mortality and over 8 years for event-free survival.
Conclusions
No SNP was significantly associated with time to event after correcting for multiple testing, but 8 independent SNPs predicted event-free survival at a suggestive threshold
Indentifier
rs2367725
Reference