PDK4
pyruvate dehydrogenase kinase 4
Summary
This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1228730833 | 7:95,214,977 | G/T | — | uncertain significance |
| rs2484814813 | 7:95,215,060 | C/T | — | uncertain significance |
| rs777726425 | 7:95,216,741 | T/G | — | uncertain significance |
| rs1179459338 | 7:95,216,743 | C/T | — | uncertain significance |
| rs751310466 | 7:95,216,812 | A/G | — | uncertain significance |
| rs368570522 | 7:95,217,029 | G/C | — | likely benign |
| rs2484817845 | 7:95,217,050 | G/T | — | uncertain significance |
| rs140587514 | 7:95,217,057 | T/G | — | uncertain significance |
| rs150572754 | 7:95,220,214 | C/A | regulatory region variant | — |
| rs758007731 | 7:95,221,306 | C/T | — | uncertain significance |
| rs2484823826 | 7:95,221,362 | G/A | — | uncertain significance |
| rs765525518 | 7:95,221,907 | G/T | — | uncertain significance |
| rs2484824871 | 7:95,222,079 | G/T | — | uncertain significance |
| rs558410517 | 7:95,222,193 | T/A | — | uncertain significance |
| rs144262262 | 7:95,222,201 | T/C | — | benign |
| rs987880364 | 7:95,222,238 | G/C | — | uncertain significance |
| rs1237073632 | 7:95,224,377 | G/A | — | uncertain significance |
| rs753250526 | 7:95,224,429 | C/G | — | uncertain significance |
| rs139435831 | 7:95,224,435 | G/A | — | uncertain significance |
| rs767793067 | 7:95,225,515 | T/G | — | uncertain significance |
| rs864622014 | 7:95,225,547 | A/C | — | uncertain significance |
| rs754761511 | 7:95,225,553 | C/T | — | uncertain significance |
| rs1450133842 | 7:95,225,602 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.