SLC27A2
solute carrier family 27 member 2
Summary
The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs777652108 | 15:50,474,776 | C/T | — | uncertain significance |
| rs141946591 | 15:50,474,801 | C/G | — | uncertain significance |
| rs758933436 | 15:50,474,887 | G/A | — | uncertain significance |
| rs754950532 | 15:50,474,904 | G/A | — | uncertain significance |
| rs2509272467 | 15:50,474,919 | C/G | — | uncertain significance |
| rs776438530 | 15:50,474,956 | T/G | — | uncertain significance |
| rs767762685 | 15:50,474,981 | G/T | — | uncertain significance |
| rs146404462 | 15:50,475,034 | A/G | — | uncertain significance |
| rs753943953 | 15:50,475,069 | T/A | — | uncertain significance |
| rs555678915 | 15:50,475,075 | G/C | — | uncertain significance |
| rs1365505 | 15:50,477,138 | C/G | — | — |
| rs1797313 | 15:50,485,464 | C/T | regulatory region variant | — |
| rs2554887 | 15:50,488,859 | T/G | — | — |
| rs1567428856 | 15:50,489,799 | T/C | — | uncertain significance |
| rs964605180 | 15:50,489,831 | C/G | — | uncertain significance |
| rs751280369 | 15:50,494,701 | A/G | — | likely benign |
| rs1218466158 | 15:50,494,723 | G/T | — | uncertain significance |
| rs1428526197 | 15:50,494,741 | C/T | — | uncertain significance |
| rs377509751 | 15:50,494,752 | G/A | — | uncertain significance |
| rs751390306 | 15:50,494,803 | G/A | — | uncertain significance |
| rs745908757 | 15:50,494,833 | A/G | — | uncertain significance |
| rs758682370 | 15:50,494,834 | T/C | — | uncertain significance |
| rs375496298 | 15:50,497,453 | C/T | — | uncertain significance |
| rs368796882 | 15:50,497,518 | G/T | — | uncertain significance |
| rs12913823 | 15:50,509,591 | C/A | — | — |
| rs769777777 | 15:50,515,313 | C/T | — | uncertain significance |
| rs185555177 | 15:50,515,314 | G/A | — | likely benign |
| rs770960290 | 15:50,515,328 | C/T | — | uncertain significance |
| rs8032718 | 15:50,515,709 | T/C | downstream gene variant | — |
| rs1485894674 | 15:50,518,227 | G/A | — | uncertain significance |
| rs755863102 | 15:50,518,240 | G/C | — | uncertain significance |
| rs566482971 | 15:50,519,250 | G/A | — | likely benign |
| rs138859946 | 15:50,519,294 | T/G | — | uncertain significance |
| rs761262316 | 15:50,519,297 | A/G | — | uncertain significance |
| rs2045297204 | 15:50,521,192 | T/C | — | uncertain significance |
| rs2509322293 | 15:50,526,122 | A/G | — | uncertain significance |
| rs374651568 | 15:50,526,179 | G/A | — | uncertain significance |
| rs754177796 | 15:50,528,130 | T/A | — | uncertain significance |
| rs138907265 | 15:50,528,150 | C/T | — | uncertain significance |
| rs373916989 | 15:50,528,154 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.