CERS3
ceramide synthase 3
Summary
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]
Known Variants84 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1023782 | 15:100,942,843 | G/T | — | benign |
| rs201602377 | 15:100,942,927 | A/G | — | likely benign |
| rs376437807 | 15:100,942,950 | G/A | — | uncertain significance |
| rs115420351 | 15:100,942,952 | C/T | — | benign |
| rs2439928 | 15:100,942,962 | T/C | — | benign |
| rs137899535 | 15:100,942,968 | C/T | — | conflicting classifications of pathogenicity |
| rs145849861 | 15:100,943,043 | C/T | — | conflicting classifications of pathogenicity |
| rs116101674 | 15:100,943,044 | G/A | — | benign |
| rs1023783 | 15:100,943,045 | T/C | — | benign |
| rs2549019227 | 15:100,943,047 | A/T | — | uncertain significance |
| rs2549019348 | 15:100,943,071 | C/T | — | uncertain significance |
| rs2549019604 | 15:100,943,155 | G/T | — | uncertain significance |
| rs547989689 | 15:100,989,218 | A/G | — | — |
| rs12592841 | 15:100,995,866 | A/T | — | benign |
| rs12050655 | 15:100,995,925 | A/G | — | benign |
| rs12595207 | 15:100,996,038 | C/T | — | benign |
| rs1256164950 | 15:100,996,182 | G/T | — | likely pathogenic |
| rs139946861 | 15:100,996,194 | G/A | — | benign |
| rs762734156 | 15:100,996,202 | A/G | — | uncertain significance |
| rs149637953 | 15:100,996,212 | G/A | — | likely benign |
| rs114065539 | 15:100,996,216 | T/C | — | benign |
| rs2014940 | 15:100,996,395 | G/A | — | benign |
| rs12906592 | 15:101,009,249 | C/T | — | benign |
| rs1966045 | 15:101,009,318 | C/T | — | benign |
| rs12592478 | 15:101,009,381 | A/G | — | benign |
| rs34108242 | 15:101,009,474 | A/T | — | benign |
| rs12909732 | 15:101,009,530 | G/A | — | benign |
| rs74041452 | 15:101,009,572 | G/C | — | benign |
| rs2034888522 | 15:101,009,599 | T/A | — | uncertain significance |
| rs146792407 | 15:101,009,624 | G/A | — | likely benign |
| rs200925198 | 15:101,009,643 | G/T | — | likely benign |
| rs374685247 | 15:101,009,669 | A/G | — | likely benign |
| rs73472039 | 15:101,012,926 | G/T | — | benign |
| rs1566775 | 15:101,013,123 | G/A | — | benign |
| rs1567644030 | 15:101,013,136 | C/T | — | pathogenic |
| rs116521824 | 15:101,013,153 | G/A | — | benign |
| rs115411592 | 15:101,013,158 | C/A | — | conflicting classifications of pathogenicity |
| rs752230253 | 15:101,013,181 | C/T | — | pathogenic |
| rs758046951 | 15:101,013,182 | G/T | — | uncertain significance |
| rs115551880 | 15:101,013,230 | G/A | — | benign |
| rs1064795328 | 15:101,013,233 | G/A | — | uncertain significance |
| rs2549116397 | 15:101,013,235 | T/A | — | uncertain significance |
| rs62038991 | 15:101,016,091 | G/A | — | benign |
| rs193921020 | 15:101,016,284 | C/A | — | uncertain significance |
| rs587776996 | 15:101,016,290 | C/A | — | pathogenic |
| rs372814367 | 15:101,016,343 | A/G | — | uncertain significance |
| rs2549119804 | 15:101,016,360 | C/T | — | pathogenic |
| rs1178676096 | 15:101,016,370 | G/A | — | uncertain significance |
| rs2654574 | 15:101,019,529 | C/T | — | benign |
| rs763559840 | 15:101,019,690 | G/A | — | likely benign |
| rs200005461 | 15:101,019,693 | G/A | — | benign |
| rs12437474 | 15:101,019,793 | C/A | — | benign |
| rs2587763 | 15:101,019,819 | G/T | — | benign |
| rs2654573 | 15:101,019,864 | C/G | — | benign |
| rs2654572 | 15:101,020,039 | C/T | — | benign |
| rs8040737 | 15:101,020,065 | G/C | — | benign |
| rs2587764 | 15:101,020,129 | T/A | — | benign |
| rs2142266216 | 15:101,020,192 | A/C | — | likely pathogenic |
| rs372884134 | 15:101,020,207 | G/A | — | uncertain significance |
| rs2654639 | 15:101,023,554 | G/C | intron variant | — |
| rs2654633 | 15:101,024,450 | C/T | — | benign |
| rs10468191 | 15:101,024,681 | G/A | — | benign |
| rs1419508162 | 15:101,024,764 | T/C | — | uncertain significance |
| rs565321595 | 15:101,024,831 | G/C | — | uncertain significance |
| rs115592596 | 15:101,024,835 | C/T | — | benign |
| rs201025462 | 15:101,024,873 | T/G | — | uncertain significance |
| rs2654629 | 15:101,030,739 | G/A | — | benign |
| rs747911784 | 15:101,031,087 | G/A | — | likely pathogenic |
| rs148139207 | 15:101,031,132 | C/T | — | likely benign |
| rs1503479 | 15:101,031,217 | C/T | — | benign |
| rs1847323 | 15:101,031,442 | G/A | — | benign |
| rs576969983 | 15:101,038,100 | A/C | — | — |
| rs2587778 | 15:101,041,746 | T/C | — | benign |
| rs2549144746 | 15:101,041,873 | A/G | — | likely benign |
| rs199880090 | 15:101,041,894 | C/T | — | conflicting classifications of pathogenicity |
| rs1354332 | 15:101,041,896 | C/T | — | benign |
| rs60405735 | 15:101,041,921 | T/C | — | benign |
| rs200391197 | 15:101,041,934 | C/T | — | likely benign |
| rs2142329812 | 15:101,041,937 | A/G | — | uncertain significance |
| rs146289102 | 15:101,041,964 | G/C | — | likely benign |
| rs762679102 | 15:101,042,012 | A/T | missense variant | pathogenic |
| rs200407745 | 15:101,042,029 | A/G | — | uncertain significance |
| rs77089459 | 15:101,042,043 | T/C | — | benign |
| rs80332023 | 15:101,073,444 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.