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POU class 6 homeobox 2 (POU6F2) is a transcription factor belonging to the POU protein family, characterized by a bipartite DNA-binding domain (POU-specific and homeodomain) that modulates gene expression through binding DNA as monomers or dimers in a sequence-specific manner. It participates in cell-type-specific differentiation pathways, particularly within neural and retinal development, and acts as a tumor suppressor associated with Wilms tumor susceptibility. Variants in POU6F2 have been implicated in disruption of gonadotropin-releasing hormone (GnRH) neuronal regulation, contributing to disorders like idiopathic hypogonadotropic hypogonadism and affecting reproductive development. Multiple isoforms exist due to alternative splicing, and their activity may involve both gene activation and repression[1][2][3].
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