Disease-gene associations mined from literature

Literature associating DMRT1 and 46,XX sex reversal

DMRT1 [ENSP00000371711]

Doublesex- and mab-3-related transcription factor 1; Transcription factor that plays a key role in male sex determination and differentiation by controlling testis development and male germ cell proliferation. Plays a central role in spermatogonia by inhibiting meiosis in undifferentiated spermatogonia and promoting mitosis, leading to spermatogonial development and allowing abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and promotes spermatogonial development by activating spermatogonial differentiation genes, such as SOHLH1. Also plays a key role in postnatal sex maintenance by maintaining testis determination and preventing feminization: represses transcription of female promoting genes such as FOXL2 and activates male-specific genes. May act as a tumor suppressor. May also play a minor role in oogenesis (By similarity); Belongs to the DMRT family.

Synonyms:  DMRT1,  DMRT1p,  hDMRT1,  H3BN61,  Q9Y5R6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM