POGZ

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An Error has occurred retrieving Wikidata item for infobox 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

Heterozygous mutation of POGZ causes White-Sutton syndrome.[4]

References

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  1. ^ Page Module:Citation/CS1/styles.css has no content.Gunther M, Laithier M, Brison O (Dec 2000). "A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening". Mol Cell Biochem. 210 (1–2): 131–42. doi:10.1023/A:1007177623283. PMID 10976766. S2CID 1339642.
  2. ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: POGZ pogo transposable element with ZNF domain".
  3. ^ Page Module:Citation/CS1/styles.css has no content.Li F, Zhang T, Syed A, Elbakry A, Holmer N, Nguyen H, Mukkavalli S, Greenberg RA, D'Andrea AD (February 2025). "CHAMP1 complex directs heterochromatin assembly and promotes homology-directed DNA repair". Nat Commun. 16 (1): 1714. doi:10.1038/s41467-025-56834-6. PMC 11832927. PMID 39962076.
  4. ^ Page Module:Citation/CS1/styles.css has no content."OMIM Entry- # 616364 - WHITE-SUTTON SYNDROME; WHSUS". www.omim.org. Retrieved 2018-11-23.

Further reading

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