03.04.2024 | Scientific Letter
A Rare Mutation in TRRAP Gene and the Expanded New Phenotype
verfasst von:
Rohan Acharya, Kapil Bhalla, Geeta Gathwala
Erschienen in:
Indian Journal of Pediatrics
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Excerpt
To the Editor: Transformation/transcription mediator associated protein (TRRAP) plays a critical role in regulating gene expression through its involvement in chromatin remodeling and transcriptional activation [
1]. It acts as a subunit of the integrator complex, which bridges the gap between transcription factors and the mediator complex, a crucial player in RNA polymerase II recruitment [
2]. Mutations in
TRRAP have been increasingly recognized as a cause of various human disorders, primarily affecting neurodevelopment, facial morphology, and skeletal development [
3,
4]. The specific effects of mutations on TRRAP function depend on the location and nature of the amino acid change. …
