Aliases for CERS1 Gene
External Ids for CERS1 Gene
Previous HGNC Symbols for CERS1 Gene
Previous GeneCards Identifiers for CERS1 Gene
This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]
GeneCards Summary for CERS1 Gene
CERS1 (Ceramide Synthase 1) is a Protein Coding gene. Diseases associated with CERS1 include Epilepsy, Progressive Myoclonic, 8 and Myoclonus Epilepsy. Among its related pathways are Sphingolipid signaling pathway and Metabolism. Gene Ontology (GO) annotations related to this gene include cytokine activity and sphingosine N-acyltransferase activity. An important paralog of this gene is GDF1.
UniProtKB/Swiss-Prot Summary for CERS1 Gene
Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA).