DISEASES

Disease-gene associations mined from literature

Literature associating REC8 and 46 XX gonadal dysgenesis

REC8 [ENSP00000482546]

Meiotic recombination protein REC8 homolog; Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II (By similarity); Belongs to the rad21 family.

Synonyms:  REC8,  REC8p,  hREC8,  A0A075B715,  H0YM87 ...

Linkouts:  STRING  Pharos  UniProt