POGZ


Pogo transposable element with ZNF domain is a protein that in humans is encoded by the POGZ gene.
The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus.
This protein was found to interact with the transcription factor Sp1 [transcription factor|SP1] in a yeast two-hybrid system. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed.
The CHAMP1 protein complex consisting of CHAMP1, POGZ and HPIα promotes heterochromatin assembly at multiple chromosomal sites, and also promotes homology-directed DNA repair of DNA double-strand breaks in these regions.

Clinical significance

Heterozygous mutation of POGZ causes White-Sutton syndrome.