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The protein encoded by POGZ appears to be a zinc finger protein containing a transposase domain at the C-terminus. Zusätzlich bieten wir Ihnen POGZ Antikörper (25) und viele weitere Produktgruppen zu diesem Protein an.
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In silico analysis and western blotting revealed this frameshift mutation generating truncated protein in peripheral blood lymphocytes, and this may disrupt several important domains of POGZ gene. Our finding broadens the spectrum of POGZ mutations and may help to understand the molecular basis of Intellectual disability (ID) and aid genetic counseling.
Data suggest that loss of function variants in POGZ lead to an identifiable syndrome of neurodevelopmental disorders with specific phenotypic traits including intellectual disability.
We find that POGZ is constitutively expressed across most tissues and has significantly higher levels of expression in the cerebellum and the pituitary gland. Disruption of POGZ is associated with intellectual disability and autism spectrum disorders
common LEDGF/p75 (zeige PSIP1 Proteine) interaction interface shared by JPO2 (zeige CDCA7L Proteine), PogZ, MLL1, IWS1 and HIV IN
The results reveal POGZ as an essential protein that links HP1alpha (zeige CBX5 Proteine) dissociation with Aurora B kinase (zeige AURKB Proteine) activation during mitosis.
LEDGF/p75 (zeige PSIP1 Proteine) has a role in DDE domain protein function and interacts with the transposase-derived DDE domain of PogZ
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. Alternatively spliced transcript variants encoding distinct isoforms have been observed.
pogo transposable element with ZNF domain
, pogo transposable element with ZNF domain-like
, putative protein product of Nbla00003
, zinc finger protein 280E
, zinc finger protein 635