GENE NAME | DEAF1 |
CHROMOSOME | 11 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000177030 |
UNIPROT ACCESSION NUMBER | O75398 |
GO MOLECULAR FUNCTION | ['DNA-binding transcription repressor activity, RNA polymerase II-specific', 'protein binding', 'RNA polymerase II transcription regulatory region sequence-specific DNA binding', 'metal ion binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
1 combination linked to DEAF1 | OLI1706 |
1 variant linked to DEAF1 | DEAF1:c.674G>T, p.Gly225Val |
1 disease linked to DEAF1 | Rare pervasive developmental disorder |