DDB1- and CUL4-associated factor 17 (DCAF17)

DDB1- and CUL4-associated factor 17 (DCAF17) is a nuclear transmembrane protein that functions as a substrate receptor in Cullin-RING E3 ubiquitin ligase complexes, interacting primarily with DDB1 and CUL4 proteins[1][2][3][5]. Highly expressed in the testis, DCAF17 is crucial for gametogenesis and the development and maintenance of adult tissue homeostasis[1][2][5]. Loss-of-function mutations in DCAF17 cause Woodhouse-Sakati syndrome, a rare autosomal recessive multisystem disorder featuring hypogonadism, alopecia, diabetes mellitus, intellectual impairment, hearing loss, and extrapyramidal symptoms[1][2][3][4][5]. The protein is central to the protein ubiquitination pathway, particularly in the nucleolus, but its precise molecular substrates and mechanisms are not fully characterized. DCAF17 deficiency in animal models leads to impaired spermatogenesis and male infertility, underlining its essential role in reproductive and cellular processes[2][5]. No current evidence links DCAF17 to common therapeutic drug interactions or use as a clinical drug target[1][2][3][4][5].

Other names

C2orf37FLJ13096Woodhouse-Sakati syndrome proteinC20orf37