這個無內含子的基因編碼一個轉錄因子,它是DNA結合蛋白的高遷移率族(HMG)box家族的成員這種蛋白質是睪丸決定因子(TDF),它啟動男性性別決定該基因突變導致x y女性性腺發育不全(swyer綜合征);含有該基因的y染色體部分移位到x染色體可導致xx男性綜合征。
This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome.