The erf gene encodes an e26 transformation-specific (ETS) domain transcription factor acting as a transcriptional repressor. The protein is phosphorylated by MAPK, which modulates its activity and nucl...[+]

The erf gene encodes an e26 transformation-specific (ETS) domain transcription factor acting as a transcriptional repressor. The protein is phosphorylated by MAPK, which modulates its activity and nuclear localization. It interacts with TLE corepressor proteins to mediate repression of target genes. This transcription factor is involved in the development of the neural crest, head mesenchyme, and branchial arches, playing a role in mesoderm patterning. [-]

             craniosynostosis

          CHITAYAT SYNDROME; CHYTS

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD