RBFOX1 (RNA Binding Fox-1 Homolog 1): RBFOX1 is a highly conserved RNA binding protein that plays a pivotal role in the regulation of alternative splicing, influencing the diversity and functionality of mRNA transcripts within the nervous system and skeletal muscle tissues. It targets a wide array of pre-mRNAs, modulating their splicing patterns to affect gene expression critical for neuronal development, synaptic function, and muscle cell differentiation. The specificity of RBFOX1 for its RNA targets is essential for the proper development and function of the central nervous system, with its dysregulation implicated in various neurological disorders, including epilepsy, autism spectrum disorders, and neurodegenerative diseases. Beyond its primary role in RNA splicing, RBFOX1 also contributes to other aspects of RNA metabolism, such as mRNA stability and translation, underscoring its multifaceted contribution to cellular and tissue homeostasis. The importance of RBFOX1 in maintaining neural and muscular health highlights its potential as a therapeutic target for treating related conditions.


Test(s) that measure/test for RBFOX1

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