DCAF17 explained

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]

Further reading

• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery. . Genome Res. . 6 . 9 . 791–806 . 1996 . 8889548 . 10.1101/gr.6.9.791. free .
• Alazami AM, Schneider SA, Bonneau D . C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. . Clin. Genet. . 78 . 6 . 585–90 . 2010 . 20507343 . 10.1111/j.1399-0004.2010.01441.x . 1131691 . etal.
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241. 2002PNAS...9916899M . etal. free .
• Alazami AM, Al-Saif A, Al-Semari A . 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 . 2008 . 19026396 . 10.1016/j.ajhg.2008.10.018 . 2668059. etal.
• Lee J, Zhou P . DCAFs, the missing link of the CUL4-DDB1 ubiquitin ligase. . Mol. Cell . 26 . 6 . 775–80 . 2007 . 17588513 . 10.1016/j.molcel.2007.06.001 . free .
• Behrends C, Sowa ME, Gygi SP, Harper JW . Network organization of the human autophagy system. . Nature . 466 . 7302 . 68–76 . 2010 . 20562859 . 10.1038/nature09204 . 2901998. 2010Natur.466...68B .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Jin J, Arias EE, Chen J . 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 . 2006 . 16949367 . 10.1016/j.molcel.2006.08.010 . etal. free .

Notes and References

1. Web site: Entrez Gene: DDB1 and CUL4 associated factor 17.