ACBD4
acyl-CoA binding domain containing 4
Summary
This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12946454 | 17:43,208,121 | A/T | upstream gene variant | — |
| rs2291447 | 17:43,212,963 | G/T | splice region variant | — |
| rs200581584 | 17:43,213,532 | C/G | — | uncertain significance |
| rs577647382 | 17:43,213,878 | C/T | — | uncertain significance |
| rs1230805492 | 17:43,213,882 | C/T | — | uncertain significance |
| rs752163773 | 17:43,213,885 | A/G | — | uncertain significance |
| rs760263177 | 17:43,213,956 | G/A | — | uncertain significance |
| rs2067216891 | 17:43,213,978 | G/A | — | uncertain significance |
| rs778510370 | 17:43,214,432 | G/A | — | uncertain significance |
| rs753494123 | 17:43,214,476 | C/T | — | uncertain significance |
| rs754692397 | 17:43,214,479 | C/G | — | uncertain significance |
| rs768955668 | 17:43,214,765 | T/C | — | likely benign |
| rs767049085 | 17:43,215,128 | G/A | — | uncertain significance |
| rs772977455 | 17:43,215,316 | C/T | — | likely benign |
| rs760081117 | 17:43,215,317 | G/A | — | uncertain significance |
| rs1372354843 | 17:43,215,335 | C/T | — | uncertain significance |
| rs1433591964 | 17:43,215,344 | C/G | — | uncertain significance |
| rs4986172 | 17:43,216,281 | C/T | intron variant | — |
| rs369014950 | 17:43,216,409 | C/T | — | likely benign |
| rs11653796 | 17:43,218,259 | A/G | intron variant | — |
| rs2055422207 | 17:43,220,857 | G/T | — | uncertain significance |
| rs368360465 | 17:43,220,860 | G/A | — | uncertain significance |
| rs371852063 | 17:43,220,866 | G/A | — | uncertain significance |
| rs1186565045 | 17:43,220,881 | C/T | — | uncertain significance |
| rs1306652195 | 17:43,220,901 | A/C | — | uncertain significance |
| rs1199844571 | 17:43,220,941 | G/A | — | uncertain significance |
| rs2509600657 | 17:43,220,965 | A/G | — | uncertain significance |
| rs1432800439 | 17:43,220,976 | T/C | — | uncertain significance |
| rs1053578 | 17:43,221,285 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.