ECI1
enoyl-CoA delta isomerase 1
Summary
This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147900765 | 16:2,289,990 | T/C | — | uncertain significance |
| rs776427889 | 16:2,290,016 | C/A | — | uncertain significance |
| rs750350533 | 16:2,290,038 | T/A | — | uncertain significance |
| rs142153290 | 16:2,290,069 | C/T | — | uncertain significance |
| rs200183052 | 16:2,290,071 | T/C | — | uncertain significance |
| rs199692587 | 16:2,290,080 | C/T | — | uncertain significance |
| rs375896338 | 16:2,290,095 | C/T | — | uncertain significance |
| rs756352083 | 16:2,290,096 | G/A | — | uncertain significance |
| rs144920416 | 16:2,290,104 | G/A | — | uncertain significance |
| rs779273100 | 16:2,290,113 | C/T | — | uncertain significance |
| rs760729560 | 16:2,293,070 | A/G | — | uncertain significance |
| rs138574813 | 16:2,293,148 | G/A | — | uncertain significance |
| rs756800787 | 16:2,293,167 | G/T | — | uncertain significance |
| rs974902251 | 16:2,293,200 | T/A | — | uncertain significance |
| rs200076790 | 16:2,293,209 | C/T | — | uncertain significance |
| rs745357478 | 16:2,294,432 | T/A | — | uncertain significance |
| rs201346166 | 16:2,294,448 | G/A | — | uncertain significance |
| rs200130130 | 16:2,294,466 | C/T | — | uncertain significance |
| rs1334330654 | 16:2,294,470 | C/A | — | uncertain significance |
| rs2093535606 | 16:2,294,487 | A/G | — | uncertain significance |
| rs376657107 | 16:2,294,493 | C/T | — | uncertain significance |
| rs199757340 | 16:2,294,514 | C/T | — | uncertain significance |
| rs145712373 | 16:2,294,516 | G/A | — | uncertain significance |
| rs1016717088 | 16:2,294,546 | G/A | — | uncertain significance |
| rs145543160 | 16:2,294,549 | C/T | — | likely benign |
| rs77407216 | 16:2,296,197 | A/C | downstream gene variant | — |
| rs745763135 | 16:2,296,880 | G/A | — | uncertain significance |
| rs112729404 | 16:2,296,927 | G/A | — | benign |
| rs11644358 | 16:2,298,697 | G/C | — | — |
| rs11645584 | 16:2,299,266 | G/A | upstream gene variant | — |
| rs574891272 | 16:2,300,154 | G/C | — | — |
| rs34713291 | 16:2,300,206 | T/G | upstream gene variant | — |
| rs890177950 | 16:2,301,331 | G/C | — | uncertain significance |
| rs1036989471 | 16:2,301,340 | A/C | — | uncertain significance |
| rs1270610401 | 16:2,301,380 | C/T | — | uncertain significance |
| rs998066549 | 16:2,301,389 | C/T | — | uncertain significance |
| rs1160008718 | 16:2,301,522 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.