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

rsidPosition (GRCh37)AllelesClassClinVar
rs7670339406:46,620,956G/C—uncertain significance
rs5315212976:46,620,985G/A—uncertain significance
rs3746193156:46,623,643G/C—uncertain significance
rs7668150376:46,623,646T/C—uncertain significance
rs1869052046:46,623,653C/T—benign
rs17629651086:46,623,699C/G—uncertain significance
rs3725350656:46,623,703G/A—uncertain significance
rs7793438456:46,623,753G/T—uncertain significance
rs108073446:46,625,635C/Tintron variant—
rs25325740506:46,626,768A/G—uncertain significance
rs7500209016:46,630,123A/T—uncertain significance
rs1440079436:46,630,646T/Gintron variant—
rs13320374946:46,637,915G/A—uncertain significance
rs11964365986:46,638,865G/A—uncertain significance
rs14185168196:46,638,895T/C—uncertain significance
rs25326044436:46,638,897A/G—uncertain significance
rs7683137536:46,638,926G/T—uncertain significance
rs94728176:46,640,992C/T——
rs7510305656:46,644,132A/G—uncertain significance
rs25326195546:46,644,155A/C—uncertain significance
rs22704506:46,644,875C/T3 prime UTR variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.