GENE NAME | MED27 |
CHROMOSOME | 9 |
ENSEMBL ID | ENSG00000160563 |
ENTREZ ID | 9442 |
UNIPROT ACCESSION NUMBER | Q6P2C8 |
GO MOLECULAR FUNCTION | ubiquitin protein ligase activity; protein binding; transcription coactivator activity |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa04919; R-HSA-381340; R-HSA-74160; R-HSA-212436; R-HSA-556833; R-HSA-1430728; R-HSA-73857; R-HSA-1266738; R-HSA-1989781; R-HSA-400206 |
1 combination linked to MED27 | OLI796 |
1 variant linked to MED27 | MED27:c.770C>T, p.Pro257Leu |
1 disease linked to MED27 | Arthrogryposis syndrome |