Premature ovarian failure protein 1B (POF1B)

Premature ovarian failure protein 1B (POF1B) is an actin-binding protein encoded by the POF1B gene on the X chromosome, primarily expressed in polarized epithelial tissues and localized to tight junctions and desmosomes. It regulates epithelial monolayer organization through control of the actin cytoskeleton and is essential for tight junction and desmosome assembly, cell polarity, and tissue architecture in epithelia. Genetic variants in POF1B (e.g. R329Q) have been associated with the pathogenesis of premature ovarian failure, likely through impaired binding to nonmuscle actin filaments and altered cytoskeletal dynamics. Its disruption leads to defects in cell adhesion, polarity, and possibly increased ovarian germ-cell apoptosis, resulting in depletion of the ovarian reserve and clinical POF. POF1B is not currently a therapeutic target, and no drugs or small molecules are known to interact with its protein product.

Other names

POF1BPOF2BProtein POF1BPremature ovarian failure protein 1BFLJ22792Premature ovarian failure, 1B

None reported. No drugs known to target or modulate POF1B