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
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