Details for Gene DEAF1

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

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