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

Caenorhabditis elegans: hyl-1
Caenorhabditis elegans: hyl-2
Danio rerio: cers3a
Danio rerio: cers3b
Drosophila melanogaster: schlank
Mus musculus: Cers3
Rattus norvegicus: Cers3

In other databases

GenAge model organism genes

A homolog of this gene for Caenorhabditis elegans is present as hyl-1

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