这个无内含子的基因编码一个转录因子,它是DNA结合蛋白的高迁移率族(HMG)box家族的成员这种蛋白质是睾丸决定因子(TDF),它启动男性性别决定该基因突变导致x y女性性腺发育不全(swyer综合征);含有该基因的y染色体部分移位到x染色体可导致xx男性综合征。[由RefSeq提供,2008年7月]
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. [provided by RefSeq, Jul 2008]
基因名: | SRY |
别名: | TDF,TDY,SRXX1,SRXY1 |
基因ID: | 6736 |
Chromosome: (GRCh37) | Y Start: 2654896 End: 2655782 Strand: |
信号通路: |