DIAPH2

DIAPH2, also known as diaphanous-related formin 2, is a protein encoded by the DIAPH2 gene in humans. This gene is a member of the diaphanous-related formin (DRF) family of proteins, which are involved in regulating the actin cytoskeleton. Actin is a crucial component of the cell's internal structure and plays a role in various cellular processes including cell shape, movement, and division.

DIAPH2 proteins function as effector proteins for the Rho family of GTPases. Specifically, they are activated by the small GTPase Rho. Upon activation, DIAPH2 promotes the formation of new actin filaments. This process is essential for a variety of cellular functions. In particular, DIAPH2 is implicated in the development and maintenance of the female reproductive system. It is known to be expressed in the ovaries and uterus and plays a role in oocyte maturation and female fertility. Mutations in the DIAPH2 gene have been associated with certain forms of primary ovarian insufficiency, a condition where women stop having menstrual periods before the age of 40. Research into the precise mechanisms of DIAPH2 function and its role in reproductive health is ongoing.