ECH1
enoyl-CoA hydratase 1
Summary
This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1971559171 | 19:39,306,263 | G/A | — | uncertain significance |
| rs567275196 | 19:39,306,353 | G/A | — | uncertain significance |
| rs58750431 | 19:39,306,529 | C/T | — | benign |
| rs778594450 | 19:39,306,600 | A/G | — | uncertain significance |
| rs777490260 | 19:39,306,604 | C/T | — | uncertain significance |
| rs2515771090 | 19:39,306,959 | C/G | — | uncertain significance |
| rs745972137 | 19:39,306,967 | G/A | — | uncertain significance |
| rs2229259 | 19:39,307,103 | C/T | — | benign |
| rs150060650 | 19:39,308,054 | G/A | upstream gene variant | — |
| rs186101961 | 19:39,308,096 | C/T | — | uncertain significance |
| rs763018317 | 19:39,308,102 | C/T | — | uncertain significance |
| rs766026728 | 19:39,308,132 | T/A | — | uncertain significance |
| rs374372967 | 19:39,308,145 | C/G | — | uncertain significance |
| rs1002654374 | 19:39,308,173 | T/C | — | uncertain significance |
| rs15570 | 19:39,308,190 | C/T | — | benign |
| rs1011839398 | 19:39,308,215 | C/T | — | uncertain significance |
| rs79994604 | 19:39,321,691 | G/C | — | benign |
| rs201526955 | 19:39,321,709 | G/C | — | uncertain significance |
| rs937400056 | 19:39,321,723 | G/A | — | uncertain significance |
| rs2513341267 | 19:39,321,764 | G/C | — | uncertain significance |
| rs747093611 | 19:39,321,783 | T/C | — | uncertain significance |
| rs2513341307 | 19:39,321,784 | T/G | — | uncertain significance |
| rs775483566 | 19:39,321,803 | C/A | — | uncertain significance |
| rs1477610190 | 19:39,322,003 | T/C | — | uncertain significance |
| rs9419 | 19:39,322,087 | G/T | — | benign |
| rs2513341952 | 19:39,322,093 | T/C | — | uncertain significance |
| rs770552849 | 19:39,322,121 | T/A | — | uncertain significance |
| rs1481307103 | 19:39,322,132 | C/T | — | uncertain significance |
| rs117820732 | 19:39,322,414 | T/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.