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ZFX

From Wikipedia, the free encyclopedia
ZFX
Identifiers
AliasesZFX, ZNF926, zinc finger protein, X-linked, zinc finger protein X-linked
External IDsOMIM: 314980; MGI: 99211; HomoloGene: 2561; GeneCards: ZFX; OMA:ZFX - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr X: 24.15 – 24.22 MbChr X: 93.12 – 93.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Zinc finger X-chromosomal protein is a protein that in mammals is encoded by the ZFX gene of the X chromosome.[5]

Function

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This gene on the X chromosome is structurally similar to a related gene on the Y chromosome (ZFY). It encodes a member of the krüppel C2H2-type zinc-finger protein family. The full-length protein contains an acidic transcriptional activation domain (AD), a nuclear localization sequence (NLS) and a DNA binding domain (DBD) consisting of 13 C2H2-type zinc fingers. Studies in mouse embryonic and adult hematopoietic stem cells showed that this gene was required as a transcriptional regulator for self-renewal of both stem cell types, but it was dispensable for growth and differentiation of their progeny. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2010]

Clinical significance

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The gene is associated with X-linked neurodevelopmental disorder.[6]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000005889Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000079509Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: ZFX zinc finger protein, X-linked".
  6. ^ Shepherdson, James L.; et al. (7 March 2024). "Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt". The American Journal of Human Genetics. 111 (3): 487–508. doi:10.1016/j.ajhg.2024.01.007. PMID 38325380.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.