CERS3 Chromosome 15
Ceramide synthase 3
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What This Gene Does
This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"CERS class homeoboxes|Ceramide synthases"
Locus Type
gene with protein product
Location
15q26.3
Ensembl
ENSG00000154227
Associated Conditions (5)
Inborn genetic diseases
Abnormality of the skin
Autosomal recessive congenital ichthyosis 9
Ichthyosis
Lamellar ichthyosis
Key Variants
RS115411592
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS137899535
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145849861
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199880090
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1256164950
Likely pathogenic
Abnormality of the skin, Abnormality of the skin
Health Risk
RS1596772428
Likely pathogenic
Autosomal recessive congenital ichthyosis 9, Autosomal recessive congenital ichthyosis 9
Health Risk
RS2142266216
Likely pathogenic
Health Risk
RS587776996
Likely pathogenic
Autosomal recessive congenital ichthyosis 9, Ichthyosis, Autosomal recessive congenital ichthyosis 9
Health Risk
RS747911784
Likely pathogenic
Abnormality of the skin, Autosomal recessive congenital ichthyosis 9, Abnormality of the skin
Health Risk
RS1567644030
Pathogenic
Autosomal recessive congenital ichthyosis 9, Autosomal recessive congenital ichthyosis 9
Health Risk
RS2549116288
Pathogenic
Health Risk
RS2549119804
Pathogenic
Autosomal recessive congenital ichthyosis 9, Autosomal recessive congenital ichthyosis 9
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115411592 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS137899535 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145849861 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199880090 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1256164950 | Health Risk | Likely pathogenic | Abnormality of the skin, Abnormality of the skin |
| RS1596772428 | Health Risk | Likely pathogenic | Autosomal recessive congenital ichthyosis 9, Autosomal recessive congenital ichthyosis 9 |
| RS2142266216 | Health Risk | Likely pathogenic | — |
| RS587776996 | Health Risk | Likely pathogenic | Autosomal recessive congenital ichthyosis 9, Ichthyosis, Autosomal recessive congenital ichthyosis 9 |
| RS747911784 | Health Risk | Likely pathogenic | Abnormality of the skin, Autosomal recessive congenital ichthyosis 9, Abnormality of the skin |
| RS1567644030 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 9, Autosomal recessive congenital ichthyosis 9 |
| RS2549116288 | Health Risk | Pathogenic | — |
| RS2549119804 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 9, Autosomal recessive congenital ichthyosis 9 |
| RS752230253 | Health Risk | Pathogenic | Lamellar ichthyosis, Lamellar ichthyosis |
| RS762679102 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 9, Autosomal recessive congenital ichthyosis 9 |