Pogo transposable element derived with ZNF domain (POGZ)

The Pogo transposable element derived with ZNF domain (POGZ) protein is a zinc finger transcription factor and chromatin regulator that binds DNA via its zinc finger domains and modulates the structure of chromatin to regulate gene expression, particularly in the brain. POGZ is essential for proper mitotic chromosome segregation, kinetochore assembly, and sister chromatid cohesion. It promotes or represses accessibility and transcription of genes linked to neurodevelopment. Mutations in the POGZ gene cause White-Sutton syndrome, which is characterized by intellectual disability, autism spectrum disorder, distinct facial features, vision and gastrointestinal problems, and often microcephaly. POGZ functions through mechanisms that remain incompletely understood, but involve interaction with chromatin components such as HP1α and partner proteins like ADNP. Loss of function disrupts neuronal development, resulting in the aforementioned clinical syndromes.

Other names

KIAA0461MRD37putative protein product of Nbla00003WHSUSzinc finger protein 280Ezinc finger protein 635ZNF280EZNF635ZNF635mSuppressor of hairy wing homolog 5Pogo transposable element with ZNF domainPogo transposable element derived with ZNF domain