ACAA2
acetyl-CoA acyltransferase 2
Summary
The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs142211915 | 18:47,310,279 | C/G | — | uncertain significance |
| rs753631016 | 18:47,310,290 | C/G | — | uncertain significance |
| rs371793129 | 18:47,310,296 | C/A | — | uncertain significance |
| rs771012528 | 18:47,310,300 | G/A | — | uncertain significance |
| rs745865904 | 18:47,311,574 | C/T | — | uncertain significance |
| rs2511365244 | 18:47,311,615 | A/T | — | uncertain significance |
| rs539036880 | 18:47,313,679 | C/G | — | uncertain significance |
| rs1248681359 | 18:47,317,843 | T/C | — | uncertain significance |
| rs2511367870 | 18:47,317,923 | G/C | — | uncertain significance |
| rs377532103 | 18:47,317,966 | C/T | — | likely benign |
| rs770834763 | 18:47,318,563 | C/T | — | uncertain significance |
| rs747783652 | 18:47,318,625 | A/G | — | uncertain significance |
| rs138932410 | 18:47,318,659 | T/C | — | uncertain significance |
| rs149436920 | 18:47,318,683 | A/T | — | benign |
| rs763693994 | 18:47,320,680 | C/T | — | uncertain significance |
| rs371834662 | 18:47,320,782 | A/G | — | uncertain significance |
| rs2511369850 | 18:47,322,154 | T/G | — | uncertain significance |
| rs200859964 | 18:47,322,179 | C/T | — | uncertain significance |
| rs757248601 | 18:47,322,184 | T/C | — | uncertain significance |
| rs199504474 | 18:47,322,238 | T/C | — | uncertain significance |
| rs183716438 | 18:47,326,426 | C/A | — | — |
| rs544628405 | 18:47,326,672 | G/T | — | — |
| rs146535277 | 18:47,329,070 | C/A | — | uncertain significance |
| rs765415172 | 18:47,329,098 | G/T | — | uncertain significance |
| rs2511373502 | 18:47,329,146 | A/C | — | uncertain significance |
| rs374355283 | 18:47,329,157 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.