Gene Symbol | SRY |
Entrez Gene ID | 6736 |
Full Name | sex determining region Y |
Synonyms | SRXX1,SRXY1,TDF,TDY |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | 46XY sex reversal 1, 400044 (3); 46XX sex reversal 1, 400045 (3) |