ACSM2A
acyl-CoA synthetase medium chain family member 2A
Summary
This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, through the transfer of acyl-CoA. These enzymes also participate in the glycine conjugation pathway in the detoxification of xenobiotics such as benzoate and ibuprofen. Expression levels of this gene in the kidney may be correlated with kidney function. This gene and its paralog ACSM2B (Gene ID: 348158), both present on chromosome 16, likely arose from a chromosomal duplication event. [provided by RefSeq, May 2017]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9923452 | 16:20,469,204 | G/A | — | — |
| rs71373192 | 16:20,470,162 | G/C | — | — |
| rs752798612 | 16:20,471,454 | A/C | — | uncertain significance |
| rs142460751 | 16:20,471,508 | C/G | — | benign |
| rs2012531906 | 16:20,471,537 | A/G | — | uncertain significance |
| rs780884024 | 16:20,471,546 | A/G | — | uncertain significance |
| rs755771543 | 16:20,471,558 | C/A | — | uncertain significance |
| rs776668743 | 16:20,471,591 | A/C | — | uncertain significance |
| rs372070297 | 16:20,471,605 | A/G | — | uncertain significance |
| rs10163426 | 16:20,474,437 | C/G | — | — |
| rs8061485 | 16:20,474,682 | T/G | — | — |
| rs7185111 | 16:20,475,278 | C/G | — | — |
| rs1910802 | 16:20,475,567 | T/A | intron variant | — |
| rs9923280 | 16:20,476,477 | A/G | intron variant | — |
| rs750212713 | 16:20,476,839 | G/A | — | uncertain significance |
| rs142474503 | 16:20,476,840 | C/T | — | uncertain significance |
| rs372896132 | 16:20,476,905 | A/C | — | uncertain significance |
| rs1052087847 | 16:20,476,912 | G/A | — | uncertain significance |
| rs781233119 | 16:20,476,917 | C/A | — | uncertain significance |
| rs141326932 | 16:20,476,938 | G/A | — | uncertain significance |
| rs762621307 | 16:20,476,954 | C/T | — | uncertain significance |
| rs1242915410 | 16:20,476,956 | G/C | — | uncertain significance |
| rs745993663 | 16:20,476,966 | G/A | — | uncertain significance |
| rs371291843 | 16:20,476,975 | G/A | — | uncertain significance |
| rs59261767 | 16:20,477,004 | C/T | stop gained | — |
| rs146045291 | 16:20,477,021 | G/A | — | likely benign |
| rs755253172 | 16:20,477,029 | T/A | — | uncertain significance |
| rs2548870845 | 16:20,477,040 | A/T | — | uncertain significance |
| rs6497490 | 16:20,477,474 | G/T | intron variant | — |
| rs752931737 | 16:20,480,863 | A/T | — | uncertain significance |
| rs779354856 | 16:20,480,879 | T/C | — | uncertain significance |
| rs2548874350 | 16:20,480,902 | A/G | — | uncertain significance |
| rs2548874477 | 16:20,480,990 | T/C | — | uncertain significance |
| rs1505100 | 16:20,481,672 | A/G | — | — |
| rs2548877064 | 16:20,482,866 | G/A | — | likely benign |
| rs1204248453 | 16:20,482,965 | C/G | — | uncertain significance |
| rs752697303 | 16:20,482,977 | T/C | — | uncertain significance |
| rs9933896 | 16:20,485,257 | G/A | intron variant | — |
| rs746846484 | 16:20,486,732 | T/A | — | uncertain significance |
| rs199633879 | 16:20,486,736 | G/A | — | uncertain significance |
| rs2548881056 | 16:20,486,740 | G/T | — | uncertain significance |
| rs765780796 | 16:20,487,016 | C/A | — | uncertain significance |
| rs765828342 | 16:20,487,030 | A/G | — | uncertain significance |
| rs774952137 | 16:20,488,731 | C/T | — | uncertain significance |
| rs541336866 | 16:20,488,746 | C/T | — | uncertain significance |
| rs193030024 | 16:20,489,147 | T/C | intron variant | — |
| rs1634308 | 16:20,489,574 | G/C | intron variant | — |
| rs1060634 | 16:20,490,613 | C/T | intron variant | — |
| rs1394678 | 16:20,491,058 | C/T | intron variant | — |
| rs749299994 | 16:20,491,904 | G/A | — | uncertain significance |
| rs1289268285 | 16:20,491,944 | T/C | — | uncertain significance |
| rs144589974 | 16:20,491,952 | C/T | — | uncertain significance |
| rs145697504 | 16:20,491,953 | G/A | — | uncertain significance |
| rs9924150 | 16:20,492,000 | A/T | missense variant | — |
| rs200695626 | 16:20,492,009 | A/G | — | uncertain significance |
| rs2548886358 | 16:20,492,019 | G/T | — | uncertain significance |
| rs755234990 | 16:20,492,148 | C/T | — | benign |
| rs75603553 | 16:20,492,161 | C/G | — | uncertain significance |
| rs375317702 | 16:20,492,232 | G/A | — | likely benign |
| rs768256697 | 16:20,492,236 | G/A | — | uncertain significance |
| rs566056507 | 16:20,492,501 | A/T | — | — |
| rs1133607 | 16:20,494,408 | C/G | missense variant | — |
| rs2014189168 | 16:20,494,480 | C/T | — | uncertain significance |
| rs1859000 | 16:20,497,273 | A/G | upstream gene variant | — |
| rs4783532 | 16:20,497,775 | G/T | — | — |
| rs1430246150 | 16:20,497,989 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.