SLC25A27
solute carrier family 25 member 27
Summary
Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs767033940 | 6:46,620,956 | G/C | — | uncertain significance |
| rs531521297 | 6:46,620,985 | G/A | — | uncertain significance |
| rs374619315 | 6:46,623,643 | G/C | — | uncertain significance |
| rs766815037 | 6:46,623,646 | T/C | — | uncertain significance |
| rs186905204 | 6:46,623,653 | C/T | — | benign |
| rs1762965108 | 6:46,623,699 | C/G | — | uncertain significance |
| rs372535065 | 6:46,623,703 | G/A | — | uncertain significance |
| rs779343845 | 6:46,623,753 | G/T | — | uncertain significance |
| rs10807344 | 6:46,625,635 | C/T | intron variant | — |
| rs2532574050 | 6:46,626,768 | A/G | — | uncertain significance |
| rs750020901 | 6:46,630,123 | A/T | — | uncertain significance |
| rs144007943 | 6:46,630,646 | T/G | intron variant | — |
| rs1332037494 | 6:46,637,915 | G/A | — | uncertain significance |
| rs1196436598 | 6:46,638,865 | G/A | — | uncertain significance |
| rs1418516819 | 6:46,638,895 | T/C | — | uncertain significance |
| rs2532604443 | 6:46,638,897 | A/G | — | uncertain significance |
| rs768313753 | 6:46,638,926 | G/T | — | uncertain significance |
| rs9472817 | 6:46,640,992 | C/T | — | — |
| rs751030565 | 6:46,644,132 | A/G | — | uncertain significance |
| rs2532619554 | 6:46,644,155 | A/C | — | uncertain significance |
| rs2270450 | 6:46,644,875 | C/T | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.