DISEASES

Disease-gene associations mined from literature

Literature associating SPO11 and infertility

SPO11 [ENSP00000360310]

Meiotic recombination protein SPO11; Component of a topoisomerase 6 complex specifically required for meiotic recombination. Together with TOP6BL, mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. The complex promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles. Essential for the phosphorylation of SMC3, HORMAD1 and HORMAD2.

Synonyms:  SPO11,  SPO11p,  hSPO11,  H0YCK9,  Q5TCH6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM