CERS1

Chr 19

ceramide synthase 1

Also known as: EPM8, LAG1, LASS1, UOG1

NCBI Gene: 10715 ENSG00000223802 UniProt: P27544

The ceramide synthase enzyme catalyzes the synthesis of C18 ceramide from acyl-CoA and sphingoid bases, playing a critical role in cerebellar development and Purkinje cell function in the brain. Autosomal recessive mutations cause progressive myoclonic epilepsy type 8, a neurodegenerative disorder involving seizures and dementia. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.692), reflecting its importance in neuronal function.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEpilepsy, progressive myoclonic 8

Clinical highlights

Gene-disease validity (ClinGen)

progressive myoclonus epilepsy · ARModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.69

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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