Transcription activator. Acts early in neural crest formation, functioning redundantly with the other group E Sox factors sox8 and sox10 to induce neural crest progenitors. Induces sox10 expression dow...[+]

Transcription activator. Acts early in neural crest formation, functioning redundantly with the other group E Sox factors sox8 and sox10 to induce neural crest progenitors. Induces sox10 expression downstream of wnt-signaling. Principally involved in development of the cranial neural crest, which is fated to form skeletal elements. Also required for otic placode specification during inner ear development. May be involved in chondrogenesis (cartilage development) during bone formation. Unlikely to play a role in sex determination but may function during testicular and ovarian differentiation. [-]

             46,XY sex reversal 10

          46,XY SEX REVERSAL 10; SRXY10

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