DDB1 and CUL4 associated factor 17 is a protein that in humans is encoded buy the DCAF17 gene .[1]
Function DCAF17 is a nuclear transmembrane protein that associates with cullin 4A / damaged DNA binding protein 1 ubiquitin ligase complex.[1]
Clinical significance Mutations in this gene are associated with Woodhouse–Sakati syndrome .[1]
References Further reading
Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res . 6 (9): 791–806. doi :10.1101/gr.6.9.791 . PMID 8889548 . Alazami AM, Schneider SA, Bonneau D, et al. (2010). "C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients". Clin. Genet . 78 (6): 585–90. doi :10.1111/j.1399-0004.2010.01441.x . PMID 20507343 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. doi :10.1073/pnas.242603899 . PMC 139241 PMID 12477932 . Alazami AM, Al-Saif A, Al-Semari A, et al. (2008). "Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome" . Am. J. Hum. Genet . 83 (6): 684–91. doi :10.1016/j.ajhg.2008.10.018 . PMC 2668059 PMID 19026396 . Lee J, Zhou P (2007). "DCAFs, the missing link of the CUL4-DDB1 ubiquitin ligase". Mol. Cell . 26 (6): 775–80. doi :10.1016/j.molcel.2007.06.001 . PMID 17588513 . Behrends C, Sowa ME, Gygi SP, Harper JW (2010). "Network organization of the human autophagy system" . Nature . 466 (7302): 68–76. doi :10.1038/nature09204 . PMC 2901998 PMID 20562859 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 . PMID 14702039 . Jin J, Arias EE, Chen J, et al. (2006). "A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1". Mol. Cell . 23 (5): 709–21. doi :10.1016/j.molcel.2006.08.010 . PMID 16949367 .