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POGZ

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
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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[edit | edit source]

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

References[edit | edit source]

  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.
  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[edit | edit source]




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