The POGZ gene provides instructions for making a protein that is found in the cell nucleus. The POGZ protein is part of a group known as zinc finger proteins, which contain one or more short regions called zinc finger domains.

Feb 26, 2020 · Pogo transposable element derived with ZNF domain (POGZ) has been identified as one of the most recurrently de novo mutated genes in patients with neurodevelopmental disorders (NDDs), including...

Mar 30, 2025 · POGZ (Pogo Transposable Element Derived With ZNF Domain) is a Protein Coding gene. Diseases associated with POGZ include White-Sutton Syndrome and Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome.

Pogo transposable element with ZNF domain is a protein that in humans is encoded by the POGZ gene. [5][6] The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus.

Nov 17, 2020 · Here, we generate a brain specific conditional knockout mouse model deficient for Pogz, an ASD risk gene. We demonstrate that Pogz deficient mice show microcephaly, growth impairment,...

The POGZ protein (pogo transposable element-derived protein with zinc finger domain) is a heterochromatin protein 1α (HP1α)-binding protein, which destabilizes the interaction between HP1α and chromatin and dissociates Aurora B kinase from …

Aug 29, 2023 · Sun et al. show that the top neurodevelopmental disorder risk factor POGZ is required to suppress retrotransposable elements in embryonic stem cells and during ESC differentiation toward a neural fate. The findings provide insights into understanding the disease mechanisms caused by POGZ dysfunction.

Dec 7, 2021 · Deleterious genetic variants in POGZ, which encodes the chromatin regulator Pogo Transposable Element with ZNF Domain protein, are strongly associated with autism spectrum disorder (ASD). Although it is a high-confidence ASD risk gene, the neurodevelopmental functions of POGZ remain unclear.

POGZ-related syndrome is an autosomal dominant genetic condition. This means that when a person has the one damaging variant in POGZ they will likely have symptoms of POGZ-related syndrome.

Feb 26, 2020 · In this study, we developed the first mouse model that carried a pathogenic de novo mutation of POGZ identified in an ASD patient. From the same patient, we established induced pluripotent stem cell (iPSC) lines with the same …