AMACR
alpha-methylacyl-CoA racemase
Summary
This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
Known Variants344 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6867641 | 5:33,985,857 | T/C | — | — |
| rs13289 | 5:33,986,409 | C/T | — | — |
| rs886060521 | 5:33,987,105 | T/C | — | uncertain significance |
| rs182361997 | 5:33,987,110 | T/A | — | uncertain significance |
| rs529140346 | 5:33,987,154 | G/T | — | uncertain significance |
| rs971469605 | 5:33,987,213 | C/T | — | uncertain significance |
| rs79880451 | 5:33,987,253 | T/C | — | likely benign |
| rs543725887 | 5:33,987,256 | G/A | — | uncertain significance |
| rs563332854 | 5:33,987,267 | C/G | — | uncertain significance |
| rs531992128 | 5:33,987,270 | A/G | — | likely benign |
| rs1006230629 | 5:33,987,323 | G/A | — | uncertain significance |
| rs1016774406 | 5:33,987,336 | G/A | — | uncertain significance |
| rs886060522 | 5:33,987,345 | C/T | — | uncertain significance |
| rs563065271 | 5:33,987,346 | G/A | — | benign |
| rs116206502 | 5:33,987,394 | C/A | — | likely benign |
| rs1383745386 | 5:33,987,434 | T/G | — | uncertain significance |
| rs116333833 | 5:33,987,471 | C/A | — | benign |
| rs537161888 | 5:33,987,555 | A/G | — | uncertain significance |
| rs886060523 | 5:33,987,576 | A/G | — | uncertain significance |
| rs886060524 | 5:33,987,638 | C/T | — | uncertain significance |
| rs752473789 | 5:33,987,831 | A/G | — | uncertain significance |
| rs530507195 | 5:33,987,832 | T/C | — | likely benign |
| rs886060525 | 5:33,987,845 | C/T | — | uncertain significance |
| rs190329271 | 5:33,987,995 | T/C | — | likely benign |
| rs886060526 | 5:33,988,017 | C/T | — | uncertain significance |
| rs886060527 | 5:33,988,020 | C/T | — | uncertain significance |
| rs141969465 | 5:33,988,088 | C/A | — | uncertain significance |
| rs550891172 | 5:33,988,166 | C/G | — | uncertain significance |
| rs150664086 | 5:33,988,222 | C/T | — | likely benign |
| rs367582757 | 5:33,988,393 | G/T | — | uncertain significance |
| rs1287477656 | 5:33,988,424 | T/C | — | uncertain significance |
| rs991052989 | 5:33,988,438 | G/A | — | uncertain significance |
| rs140021599 | 5:33,988,445 | A/C | — | benign |
| rs143877467 | 5:33,988,484 | A/G | — | conflicting classifications of pathogenicity |
| rs146385238 | 5:33,988,658 | A/G | — | uncertain significance |
| rs575264685 | 5:33,988,675 | G/A | — | uncertain significance |
| rs550502356 | 5:33,988,749 | A/G | — | likely benign |
| rs533094975 | 5:33,988,759 | T/C | — | uncertain significance |
| rs557294515 | 5:33,988,965 | A/G | — | uncertain significance |
| rs1182523287 | 5:33,989,198 | T/G | — | uncertain significance |
| rs2478950549 | 5:33,989,207 | A/G | — | likely benign |
| rs1484335138 | 5:33,989,210 | T/A | — | uncertain significance |
| rs2478950622 | 5:33,989,221 | T/A | — | uncertain significance |
| rs200270822 | 5:33,989,224 | T/C | — | uncertain significance |
| rs2478950662 | 5:33,989,228 | A/G | — | likely benign |
| rs1753388220 | 5:33,989,233 | T/C | — | uncertain significance |
| rs2112032028 | 5:33,989,238 | T/C | — | uncertain significance |
| rs2478950813 | 5:33,989,239 | C/G | — | uncertain significance |
| rs773780297 | 5:33,989,250 | T/C | — | uncertain significance |
| rs774406448 | 5:33,989,263 | C/T | — | uncertain significance |
| rs561675407 | 5:33,989,264 | G/A | — | conflicting classifications of pathogenicity |
| rs374668256 | 5:33,989,265 | C/T | — | uncertain significance |
| rs1561379750 | 5:33,989,266 | G/A | — | uncertain significance |
| rs138052540 | 5:33,989,277 | A/G | — | uncertain significance |
| rs761488582 | 5:33,989,296 | C/T | — | uncertain significance |
| rs779722935 | 5:33,989,302 | G/C | — | uncertain significance |
| rs2112032237 | 5:33,989,311 | T/C | — | uncertain significance |
| rs1189329151 | 5:33,989,315 | A/T | — | uncertain significance |
| rs2478951501 | 5:33,989,320 | C/A | — | uncertain significance |
| rs1753394786 | 5:33,989,321 | C/T | — | likely benign |
| rs749703699 | 5:33,989,322 | C/G | — | uncertain significance |
| rs1160011194 | 5:33,989,330 | A/G | — | likely benign |
| rs779290495 | 5:33,989,336 | G/A | — | conflicting classifications of pathogenicity |
| rs772219669 | 5:33,989,344 | G/A | — | uncertain significance |
| rs1476213297 | 5:33,989,345 | G/A | — | likely benign |
| rs368693738 | 5:33,989,346 | G/A | — | uncertain significance |
| rs1265714665 | 5:33,989,353 | A/C | — | uncertain significance |
| rs760727161 | 5:33,989,354 | C/T | — | likely benign |
| rs761768331 | 5:33,989,363 | T/C | — | likely benign |
| rs2478951832 | 5:33,989,364 | G/A | — | uncertain significance |
| rs764961991 | 5:33,989,369 | G/C | — | likely benign |
| rs371343345 | 5:33,989,371 | G/A | — | uncertain significance |
| rs766116509 | 5:33,989,372 | G/A | — | likely benign |
| rs200505839 | 5:33,989,380 | C/T | — | conflicting classifications of pathogenicity |
| rs906797872 | 5:33,989,381 | G/A | — | likely benign |
| rs575263204 | 5:33,989,382 | T/A | — | uncertain significance |
| rs2478952088 | 5:33,989,386 | G/C | — | uncertain significance |
| rs2112032576 | 5:33,989,397 | G/T | — | uncertain significance |
| rs2478952194 | 5:33,989,402 | A/C | — | uncertain significance |
| rs113361629 | 5:33,989,403 | A/T | — | uncertain significance |
| rs139973015 | 5:33,989,405 | C/T | — | likely benign |
| rs747129541 | 5:33,989,406 | G/A | — | uncertain significance |
| rs768752342 | 5:33,989,408 | G/A | — | likely benign |
| rs886060529 | 5:33,989,410 | C/T | — | uncertain significance |
| rs201507169 | 5:33,989,413 | G/A | — | uncertain significance |
| rs1234892826 | 5:33,989,433 | T/A | — | uncertain significance |
| rs772946350 | 5:33,989,434 | G/A | — | uncertain significance |
| rs762820381 | 5:33,989,437 | C/A | — | uncertain significance |
| rs2478952646 | 5:33,989,448 | A/G | — | uncertain significance |
| rs886060530 | 5:33,989,458 | C/T | — | uncertain significance |
| rs974623718 | 5:33,989,459 | C/T | — | likely benign |
| rs774180397 | 5:33,989,460 | G/A | — | uncertain significance |
| rs2112032792 | 5:33,989,463 | G/A | — | uncertain significance |
| rs1271558136 | 5:33,989,471 | G/T | — | likely benign |
| rs1253952136 | 5:33,989,473 | C/T | — | uncertain significance |
| rs759217337 | 5:33,989,479 | T/C | — | uncertain significance |
| rs766952450 | 5:33,989,482 | C/T | — | uncertain significance |
| rs752187529 | 5:33,989,483 | G/A | — | likely benign |
| rs2478952951 | 5:33,989,491 | T/C | — | uncertain significance |
| rs2112032937 | 5:33,989,498 | C/T | — | uncertain significance |
Showing 100 of 344 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.