Gene Symbol | CERS1 |
Entrez Gene ID | 10715 |
Full Name | ceramide synthase 1 |
Synonyms | EPM8,LAG1,LASS1,UOG1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Epilepsy, progressive myoclonic, 8, 616230 (3) |