SRY encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA binding proteins (HMGs).

Pathology

 germline mutations in XY females with gonadal dysgenesis (one type of Swyer syndrome, MIM.306100)

 germline mutations in XX females with gonadal dysgenesis

 germline mutations in sex reversal with partial ovarian function

 partial gonadal dysgenesis

 translocation of part of the Y chromosome containing SRY to the X chromosome in XX males (MIM.278850).

References

 Harley VR, Clarkson MJ, Argentaro A. The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9]. Endocr Rev. 2003 Aug;24(4):466-87. PMID: #12920151#

 Jordan BK, Vilain E. Sry and the genetics of sex determination. Adv Exp Med Biol. 2002;511:1-13; discussion 13-4. PMID: #12575752#

 Clarkson MJ, Harley VR. Sex with two SOX on: SRY and SOX9 in testis development. Trends Endocrinol Metab. 2002 Apr;13(3):106-11. PMID: #11893523#