From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
DDB1 and CUL4 associated factor 17 is a
protein that in humans is encoded buy the DCAF17
gene.
[5]
Function
DCAF17 is a nuclear transmembrane protein that associates with
cullin 4A /
damaged DNA binding protein 1
ubiquitin ligase complex.
[5]
Clinical significance
Mutations in this gene are associated with
Woodhouse–Sakati syndrome.
[5]
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.
S2CID
1131691.
- 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.
Bibcode:
2002PNAS...9916899M.
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.
Bibcode:
2010Natur.466...68B.
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.