POGZ
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Pogo transposable element with ZNF domain is a protein that in humans is encoded by the POGZ gene.[1][2]
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 in a yeast two-hybrid system. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed.[2]
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.[3]
Clinical significance
[edit | edit source]Heterozygous mutation of POGZ causes White-Sutton syndrome.[4]
References
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Further reading
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