DCAF17, also known as DDB1 and CUL4 associated factor 17, is a human protein encoded by the DCAF17 gene. It is implicated in a range of cellular processes due to its role as a substrate receptor for CUL4-DDB1 ubiquitin ligase complex. The ubiquitin-proteasome system, where DCAF17 plays a part, is crucial for protein degradation and turnover, which is essential for maintaining cellular homeostasis.Mutations in the DCAF17 gene are associated with Woodhouse-Sakati syndrome, a rare autosomal recessive disorder. This syndrome is characterized by a spectrum of features including hypogonadism, diabetes mellitus, alopecia, intellectual disability, and deafness. The protein's malfunction due to genetic alterations can lead to this wide array of systemic dysfunctions, highlighting its significance in human biology.
DCAF17's exact molecular function is not fully elucidated, but it is known to interact with multiple proteins and has been linked to the regulation of transcription and DNA repair. It is a part of the complex network of protein interactions that govern cell cycle progression, DNA damage responses, and perhaps even the epigenetic regulation of gene expression. Ongoing research aims to unravel the complete range of DCAF17's biological activities and its as a target for intervention in the disorders associated with its dysfunction.
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