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词条 DCAF17
释义

  1. Function

  2. Clinical significance

  3. References

  4. Further reading

{{Infobox_gene}}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

1. ^{{cite web | title = Entrez Gene: DDB1 and CUL4 associated factor 17| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80067| accessdate = }}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1996 |pmid= 8889548 |doi= 10.1101/gr.6.9.791}}
  • {{cite journal |vauthors=Alazami AM, Schneider SA, Bonneau D |title=C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. |journal=Clin. Genet. |volume=78 |issue= 6 |pages= 585–90 |year= 2010 |pmid= 20507343 |doi= 10.1111/j.1399-0004.2010.01441.x |display-authors=etal}}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|display-authors=etal}}
  • {{cite journal |vauthors=Alazami AM, Al-Saif A, Al-Semari A |title=Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. |journal=Am. J. Hum. Genet. |volume=83 |issue= 6 |pages= 684–91 |year= 2008 |pmid= 19026396 |doi= 10.1016/j.ajhg.2008.10.018 |pmc=2668059|display-authors=etal}}
  • {{cite journal |vauthors=Lee J, Zhou P |title=DCAFs, the missing link of the CUL4-DDB1 ubiquitin ligase. |journal=Mol. Cell |volume=26 |issue= 6 |pages= 775–80 |year= 2007 |pmid= 17588513 |doi= 10.1016/j.molcel.2007.06.001 }}
  • {{cite journal |vauthors=Behrends C, Sowa ME, Gygi SP, Harper JW |title=Network organization of the human autophagy system. |journal=Nature |volume=466 |issue= 7302 |pages= 68–76 |year= 2010 |pmid= 20562859 |doi= 10.1038/nature09204 |pmc=2901998}}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
  • {{cite journal |vauthors=Jin J, Arias EE, Chen J |title=A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. |journal=Mol. Cell |volume=23 |issue= 5 |pages= 709–21 |year= 2006 |pmid= 16949367 |doi= 10.1016/j.molcel.2006.08.010 |display-authors=etal}}
{{refend}}
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