ACOX3
acyl-CoA oxidase 3, pristanoyl
Summary
Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140181650 | 4:8,368,731 | G/A | — | uncertain significance |
| rs755070393 | 4:8,368,755 | C/T | — | uncertain significance |
| rs149623650 | 4:8,368,756 | G/A | — | uncertain significance |
| rs2474268611 | 4:8,368,789 | C/T | — | uncertain significance |
| rs759529720 | 4:8,372,637 | C/T | — | uncertain significance |
| rs746715394 | 4:8,372,693 | T/G | — | uncertain significance |
| rs1194265807 | 4:8,372,701 | G/A | — | likely benign |
| rs41264709 | 4:8,372,727 | G/A | — | benign |
| rs200318338 | 4:8,375,308 | C/T | — | likely benign |
| rs2474314392 | 4:8,375,336 | C/T | — | likely benign |
| rs2280571 | 4:8,375,342 | A/G | — | benign |
| rs143748739 | 4:8,376,719 | G/A | — | uncertain significance |
| rs765630911 | 4:8,376,723 | C/A | — | uncertain significance |
| rs758065310 | 4:8,376,764 | C/T | — | uncertain significance |
| rs746138772 | 4:8,376,780 | G/A | — | uncertain significance |
| rs1392681631 | 4:8,376,786 | A/C | — | uncertain significance |
| rs199766636 | 4:8,376,819 | G/A | — | uncertain significance |
| rs60183225 | 4:8,376,835 | C/G | — | benign |
| rs1716771453 | 4:8,376,857 | G/A | — | uncertain significance |
| rs140873000 | 4:8,376,867 | G/A | — | uncertain significance |
| rs201253671 | 4:8,376,870 | C/G | — | uncertain significance |
| rs62286003 | 4:8,383,215 | T/G | — | benign |
| rs756214944 | 4:8,383,259 | C/T | — | uncertain significance |
| rs148853379 | 4:8,383,292 | C/T | — | uncertain significance |
| rs2474367090 | 4:8,383,298 | A/G | — | uncertain significance |
| rs1006113 | 4:8,390,311 | G/A | upstream gene variant | — |
| rs146891905 | 4:8,390,903 | C/T | — | uncertain significance |
| rs13434465 | 4:8,390,948 | C/T | — | benign |
| rs114126152 | 4:8,390,998 | C/T | — | uncertain significance |
| rs1718682857 | 4:8,391,013 | T/A | — | uncertain significance |
| rs116406348 | 4:8,391,358 | G/A | — | likely benign |
| rs113743805 | 4:8,394,093 | G/A | — | uncertain significance |
| rs28627156 | 4:8,394,094 | G/A | — | benign |
| rs151196972 | 4:8,394,124 | C/T | — | likely benign |
| rs140347834 | 4:8,394,145 | C/T | — | likely benign |
| rs145226987 | 4:8,394,156 | C/T | — | uncertain significance |
| rs371422703 | 4:8,396,361 | G/A | — | uncertain significance |
| rs747511949 | 4:8,396,381 | C/T | — | likely benign |
| rs1433149508 | 4:8,396,397 | G/C | — | uncertain significance |
| rs369291813 | 4:8,396,411 | G/A | — | uncertain significance |
| rs371820928 | 4:8,396,433 | C/T | — | uncertain significance |
| rs905746527 | 4:8,396,468 | T/C | — | uncertain significance |
| rs754294210 | 4:8,398,786 | C/T | — | uncertain significance |
| rs1039399302 | 4:8,398,797 | C/T | — | uncertain significance |
| rs146357488 | 4:8,398,833 | C/T | — | uncertain significance |
| rs1310416814 | 4:8,398,834 | G/C | — | uncertain significance |
| rs376618434 | 4:8,398,843 | C/T | — | uncertain significance |
| rs41264711 | 4:8,401,260 | C/T | — | benign |
| rs2474514278 | 4:8,401,284 | T/G | — | uncertain significance |
| rs138345511 | 4:8,401,302 | G/A | — | uncertain significance |
| rs749601229 | 4:8,401,348 | G/A | — | uncertain significance |
| rs1720894812 | 4:8,407,692 | G/T | — | uncertain significance |
| rs376571135 | 4:8,407,695 | C/T | — | uncertain significance |
| rs368983703 | 4:8,407,718 | A/G | — | uncertain significance |
| rs1344898047 | 4:8,407,740 | G/A | — | uncertain significance |
| rs779504968 | 4:8,407,760 | G/A | — | uncertain significance |
| rs775596751 | 4:8,412,028 | T/C | — | uncertain significance |
| rs2474600800 | 4:8,412,080 | T/A | — | uncertain significance |
| rs201364276 | 4:8,416,033 | C/T | — | uncertain significance |
| rs140131783 | 4:8,416,051 | G/C | — | uncertain significance |
| rs2474636640 | 4:8,416,071 | C/T | — | uncertain significance |
| rs2474641680 | 4:8,416,582 | T/A | — | uncertain significance |
| rs73211315 | 4:8,416,586 | T/G | — | benign |
| rs753519828 | 4:8,416,587 | C/T | — | likely benign |
| rs114127771 | 4:8,416,589 | T/C | — | benign |
| rs146248344 | 4:8,417,482 | C/T | — | likely benign |
| rs1722263115 | 4:8,417,501 | G/A | — | uncertain significance |
| rs142858214 | 4:8,417,558 | C/T | — | likely benign |
| rs114891471 | 4:8,417,560 | G/A | — | conflicting classifications of pathogenicity |
| rs371825392 | 4:8,417,612 | C/G | — | uncertain significance |
| rs760846643 | 4:8,417,621 | G/A | — | uncertain significance |
| rs199723449 | 4:8,417,629 | C/T | — | uncertain significance |
| rs115667291 | 4:8,417,646 | G/A | — | likely benign |
| rs139211797 | 4:8,417,683 | C/T | — | likely benign |
| rs1180684611 | 4:8,417,686 | G/A | — | uncertain significance |
| rs141483833 | 4:8,418,098 | G/A | — | benign |
| rs536805067 | 4:8,418,119 | T/G | — | uncertain significance |
| rs145529976 | 4:8,418,142 | G/A | — | uncertain significance |
| rs12513296 | 4:8,418,148 | T/G | — | benign |
| rs759287029 | 4:8,418,157 | C/T | — | uncertain significance |
| rs35092737 | 4:8,418,165 | C/T | — | benign |
| rs756395912 | 4:8,418,175 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.