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SKI family transcriptional corepressor 1 (SKOR1) is a member of the SKI protein family and acts predominantly as a transcriptional corepressor in the central nervous system, especially in neurons[3][5]. It inhibits bone morphogenetic protein (BMP)-Smad-dependent transcription, modifying signaling essential for neuronal development and homeostasis[3][5]. SKOR1 interacts with transcription factors, notably LBX1, and is highly expressed in the brain and spinal cord, where it regulates gene programs important for neuronal subtype determination and function[1][3]. Genetic variants in the SKOR1 gene are strongly associated with familial cases of restless legs syndrome (RLS), and its expression is regulated by MEIS1, another RLS risk gene[1][3][5]. Dysregulation of SKOR1 contributes to neurological phenotypes such as altered pain processing and sensorimotor integration in animal models, and recent data suggest a possible role in the pathogenesis of neurodegenerative diseases through impacts on mitochondrial function and neuronal resilience[3]. There are currently no known drugs that directly target SKOR1, and it is not considered a traditional therapeutic target at this time[5].
Not applicable (no direct drug modulators currently known)
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