YY1
Transcriptional repressor protein From Wikipedia, the free encyclopedia
YY1 (Yin Yang 1)[5] is a transcriptional repressor protein in humans that is encoded by the YY1 gene.[6][7]
Function
YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. Hence, the YY in the name stands for "yin-yang." YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1.[8] YY1 promotes enhancer-promoter chromatin loops by forming dimers and promoting DNA interactions. Its dysregulation disrupts enhancer-promoter loops and gene expression.[9][10]
Clinical significance
YY1 heterozygous deletions, missense, and nonsense mutations cause Gabriele-DeVries syndrome (GADEVS),[11][12] an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, dysmorphic facial features, feeding problems, intrauterine growth restriction, variable cognitive impairment, behavioral problems and other congenital malformations.[10] A website is available in order to collect and share clinical information between clinicians and the families of affected individuals.[13]
Interactions
YY1 has been shown to interact with:
References
Further reading
External links
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