CERS1 gene

ceramide synthase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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

From NCBI Gene:

  • Epilepsy, progressive myoclonic 8

From UniProt:

Epilepsy, progressive myoclonic 8 (EPM8): A severe form of progressive myoclonic epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment. [MIM:616230]

Cytogenetic Location: 19p13.11, which is the short (p) arm of chromosome 19 at position 13.11

Molecular Location: base pairs 18,868,545 to 18,896,727 on chromosome 19 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 19p13.11, which is the short (p) arm of chromosome 19 at position 13.11
  • EPM8
  • GDF-1
  • GDF1
  • LAG1
  • LASS1
  • UOG1