The sox1 gene encodes a transcription factor of the HMG-box family, which is expressed in the developing neural plate and non-neural ectoderm. Its protein functions to specify neuronal precursors by pr...[+]

The sox1 gene encodes a transcription factor of the HMG-box family, which is expressed in the developing neural plate and non-neural ectoderm. Its protein functions to specify neuronal precursors by promoting neurogenesis within the neural plate and inhibiting alternative differentiation pathways in the ectoderm. The protein localizes to the nucleus and operates as part of a network involving notch1 to maintain progenitor cells. Expression is also observed in the cranial neural crest, otic placodes, and lens placodes, where it contributes to sensory organ development. [-]

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