Aliases for CERS2 Gene
External Ids for CERS2 Gene
Previous HGNC Symbols for CERS2 Gene
This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for CERS2 Gene
CERS2 (Ceramide Synthase 2) is a Protein Coding gene. Diseases associated with CERS2 include Myoclonic Epilepsy, Juvenile 3 and Hereditary Sensory And Autonomic Neuropathy Type 1. Among its related pathways are Sphingolipid signaling pathway and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include sphingosine N-acyltransferase activity. An important paralog of this gene is CERS3.
UniProtKB/Swiss-Prot Summary for CERS2 Gene
Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward very-long (C22:0-C24:0) chain as acyl donor.