CERS1

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]

Ceramide Synthase 1

Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA).

Cellular response to dithiothreitol Source: UniProtKB
Cellular response to drug Source: UniProtKB
Cellular response to mycotoxin Source: UniProtKB
Cellular response to UV-A Source: UniProtKB
Ceramide biosynthetic process Source: UniProtKB
Negative regulation of telomerase activity Source: UniProtKB
Sphingolipid biosynthetic process Source: UniProtKB

Endoplasmic reticulum membrane

Epilepsy, progressive myoclonic 8 (EPM8): A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM8 is an autosomal recessive form characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment.

Acetylated. Deacetylation by SIRT3 increases enzyme activity and promotes mitochondrial ceramide accumulation.