LongevityMap Gene

Gene details

HGNC symbol
CERS3 
Aliases
ARCI9; LASS3 
Common name
ceramide synthase 3 
Description
This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Cytogenetic Location
15q26.3
UCSC Genome Browser
View 15q26.3 on the UCSC genome browser
OMIM
615276
Ensembl
ENSG00000154227
UniProt/Swiss-Prot
CERS3_HUMAN
Entrez Gene
204219
UniGene
662371
1000 Genomes
1000 Genomes

Homologs in model organisms

Mus musculus
Cers3
Rattus norvegicus
Cers3

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Caucasians
Study Design
Meta-analysis of GWAS in Caucasians from four prospective cohort studies: the Age, Gene/Environment Susceptibility-Reykjavik Study, the Cardiovascular Health Study, the Framingham Heart Study, and the Rotterdam Study participating in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Longevity was defined as survival to age 90 years or older (n = 1,836); the comparison group comprised cohort members who died between the ages of 55 and 80 years (n = 1,955).
Conclusions
There were 273 single-nucleotide polymorphism (SNP) associations with p < .0001, but none reached significance after correcting for multiple testing
Indentifier
rs12914235
Reference