ACSL6
acyl-CoA synthetase long chain family member 6
Summary
The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2531685067 | 5:131,295,292 | C/G | — | uncertain significance |
| rs200587334 | 5:131,296,221 | T/C | — | likely benign |
| rs540883722 | 5:131,298,292 | A/G | — | uncertain significance |
| rs73264077 | 5:131,302,124 | G/A | — | benign |
| rs115302912 | 5:131,302,170 | G/A | — | uncertain significance |
| rs768486751 | 5:131,307,284 | G/A | — | uncertain significance |
| rs764113174 | 5:131,308,430 | A/C | — | uncertain significance |
| rs2531813452 | 5:131,308,470 | C/G | — | uncertain significance |
| rs762139509 | 5:131,308,475 | C/T | — | uncertain significance |
| rs1183880502 | 5:131,308,505 | A/G | — | uncertain significance |
| rs571229269 | 5:131,308,520 | C/A | — | uncertain significance |
| rs140341663 | 5:131,308,521 | G/A | — | likely benign |
| rs762827404 | 5:131,309,068 | C/T | — | uncertain significance |
| rs150654858 | 5:131,310,672 | G/C | — | benign |
| rs11743803 | 5:131,312,238 | A/G | — | — |
| rs375566990 | 5:131,312,379 | C/T | — | uncertain significance |
| rs11740791 | 5:131,321,159 | G/C | — | benign |
| rs368021532 | 5:131,323,746 | C/T | — | uncertain significance |
| rs776448382 | 5:131,323,773 | C/A | — | uncertain significance |
| rs2531987317 | 5:131,324,561 | T/C | — | uncertain significance |
| rs537775798 | 5:131,325,127 | A/C | — | uncertain significance |
| rs755792190 | 5:131,325,141 | T/A | — | uncertain significance |
| rs143653785 | 5:131,325,196 | G/A | — | likely benign |
| rs3763118 | 5:131,325,201 | C/T | — | likely benign |
| rs199702305 | 5:131,326,566 | C/T | — | uncertain significance |
| rs140760107 | 5:131,329,760 | C/T | — | benign |
| rs1416834455 | 5:131,329,761 | G/A | — | uncertain significance |
| rs939233922 | 5:131,329,826 | C/G | — | likely benign |
| rs536503769 | 5:131,329,852 | G/A | — | uncertain significance |
| rs77931625 | 5:131,329,943 | C/T | — | likely benign |
| rs7714191 | 5:131,341,541 | G/C | intron variant | — |
| rs145839757 | 5:131,347,238 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.