POGZ

From English Wikipedia @ Freddythechick

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]

Clinical significance

Heterozygous mutation of POGZ causes White-Sutton syndrome.[3]

References

  1. ^ 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. ^ 2.0 2.1 "Entrez Gene: POGZ pogo transposable element with ZNF domain".
  3. ^ "OMIM Entry- # 616364 - WHITE-SUTTON SYNDROME; WHSUS". www.omim.org. Retrieved 2018-11-23.

Further reading