The gene cbfa2t3 encodes a transcription factor containing zinc finger domains. The protein functions in neural crest cell specification and differentiation, acting as a transcriptional corepressor for...[+]

The gene cbfa2t3 encodes a transcription factor containing zinc finger domains. The protein functions in neural crest cell specification and differentiation, acting as a transcriptional corepressor for genes involved in this process. Expression is observed in the premigratory and migratory cranial neural crest, head mesenchyme, pharyngeal arches, otic vesicle, and pronephros. It regulates developmental processes including craniofacial cartilage formation. The protein localizes to the nucleus where it modulates gene expression programs critical for proper embryogenesis. [-]

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