Full Name: Sex Determining Region Y
BACKGROUND: 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.
Synonyms: SRXX1; SRXY1; TDF; TDY
Research Areas: Epigenetics
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