| ceramide synthase 1 | OKDB#: 5658 |
| Symbols: | CERS1 | Species: | human | ||
| Synonyms: | EPM8, GDF1, LAG1, UOG1, GDF-1, LASS1 | Locus: | 19p13.11 in Homo sapiens |
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| General Comment | NCBI 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] | ||||
| General function | Enzyme | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Oct. 24, 2019, 2:09 p.m. | by: |
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| last update: | Oct. 24, 2019, 2:10 p.m. | by: | hsueh email: |
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