CERS1 Chromosome 19
Ceramide synthase 1
Upload your DNA to see your personal genotypes for variants in CERS1.
What This Gene Does
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]
Gene Info
Gene Group
Ceramide synthases
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000223802
Associated Conditions (4)
Progressive myoclonic epilepsy type 8
Congenital heart defects
multiple types
6
Key Variants
RS1041161328
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8
Health Risk
RS1253756196
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8
Health Risk
RS1375601977
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8
Health Risk
RS768421620
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8
Health Risk
RS2145985085
Likely pathogenic
Congenital heart defects, multiple types, 6
Health Risk
RS200024180
Pathogenic
Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1041161328 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8 |
| RS1253756196 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8 |
| RS1375601977 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8 |
| RS768421620 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8 |
| RS2145985085 | Health Risk | Likely pathogenic | Congenital heart defects, multiple types, 6 |
| RS200024180 | Health Risk | Pathogenic | Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8 |