Michael Peracchio

Apr 22, 2024 | biorxiv.org | Elizabeth Werren |Louisa Kalsner |Jessica D. Ewald |Michael Peracchio

AbstractP21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies.