Biology:DCAF17
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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
- "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. 1996. doi:10.1101/gr.6.9.791. PMID 8889548.
- "C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.". Clin. Genet. 78 (6): 585–90. 2010. doi:10.1111/j.1399-0004.2010.01441.x. PMID 20507343.
- "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "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. doi:10.1016/j.ajhg.2008.10.018. PMID 19026396.
- "DCAFs, the missing link of the CUL4-DDB1 ubiquitin ligase.". Mol. Cell 26 (6): 775–80. 2007. doi:10.1016/j.molcel.2007.06.001. PMID 17588513.
- "Network organization of the human autophagy system.". Nature 466 (7302): 68–76. 2010. doi:10.1038/nature09204. PMID 20562859. Bibcode: 2010Natur.466...68B.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "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. doi:10.1016/j.molcel.2006.08.010. PMID 16949367.
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