| Entrez Gene ID | 5166 |
|---|---|
| Official Gene Symbol | PDK4 (GeneCards) |
| Full name | pyruvate dehydrogenase kinase 4 |
| Location | 7q21.3 |
| Other ids | Vega : OTTHUMG00000153977 MIM : 602527 HGNC : HGNC:8812 Ensembl : ENSG00000004799 |
| Other names | None |
| 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] |
Found 8 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 10369 | 5166 | PDK4 | 7 | 95335088 | 95335088 | Asymptomatic | HiSeq X Ten |
| 10371 | 5166 | PDK4 | 7 | 95325206 | 95325206 | Asymptomatic | HiSeq X Ten |
| 10430 | 5166 | PDK4 | 7 | 95397289 | 95397289 | Asymptomatic | HiSeq X Ten |
| 10827 | 5166 | PDK4 | 7 | 95391059 | 95391059 | Asymptomatic | HiSeq X Ten |
| 11293 | 5166 | PDK4 | 7 | 95276592 | 95276592 | Asymptomatic | HiSeq X Ten |
| 11312 | 5166 | PDK4 | 7 | 95273303 | 95273303 | Asymptomatic | HiSeq X Ten |
| 11587 | 5166 | PDK4 | 7 | 95212585 | 95212585 | Xeroderma Pigmentosum | HiSeq X Ten |
| 11588 | 5166 | PDK4 | 7 | 95303250 | 95303250 | Xeroderma Pigmentosum | HiSeq X Ten |