DISEASES

Disease-gene associations mined from literature

Literature associating HORMAD1 and male infertility

HORMAD1 [ENSP00000355167]

HORMA domain-containing protein 1; Plays a key role in meiotic progression. Regulates 3 different functions during meiosis: ensures that sufficient numbers of processed DNA double-strand breaks (DSBs) are available for successful homology search by increasing the steady-state numbers of single- stranded DSB ends. Promotes synaptonemal-complex formation independently of its role in homology search. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes.

Synonyms:  HORMAD1,  HORMAD1p,  hHORMAD1,  A0A140VKG9,  Q86X24 ...

Linkouts:  STRING  Pharos  UniProt  OMIM