HECW2
{{Short description|Protein-coding gene in the species Homo sapiens}}
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HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 is a protein that in humans is encoded by the HECW2 gene.{{cite web | title = Entrez Gene: HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | url = https://www.ncbi.nlm.nih.gov/gene/57520 | accessdate = 2014-10-24
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Clinical significance
Mutations in the HECW2 gene have been associated to epilepsy and intellectual disability. These mutations affect one copy of the HECW2 gene and are believed to change the function of the HECW2 protein.{{cite journal | vauthors = Halvardson J, Zhao JJ, Zaghlool A, Wentzel C, Georgii-Hemming P, Månsson E, Ederth Sävmarker H, Brandberg G, Soussi Zander C, Thuresson AC, Feuk L | title = Mutations in HECW2 are associated with intellectual disability and epilepsy | journal = Journal of Medical Genetics | volume = 53| issue = 10| pages = 697–704| year = 2016 | pmid = 27334371 | doi = 10.1136/jmedgenet-2016-103814 | pmc=5099177}}
References
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Further reading
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- {{cite journal | vauthors = Miyazaki K, Ozaki T, Kato C, Hanamoto T, Fujita T, Irino S, Watanabe K, Nakagawa T, Nakagawara A | title = A novel HECT-type E3 ubiquitin ligase, NEDL2, stabilizes p73 and enhances its transcriptional activity | journal = Biochemical and Biophysical Research Communications | volume = 308 | issue = 1 | pages = 106–13 | date = Aug 2003 | pmid = 12890487 | doi = 10.1016/s0006-291x(03)01347-0 }}
- {{cite journal | vauthors = Cui Y, He S, Xing C, Lu K, Wang J, Xing G, Meng A, Jia S, He F, Zhang L | title = SCFFBXL¹⁵ regulates BMP signalling by directing the degradation of HECT-type ubiquitin ligase Smurf1 | journal = The EMBO Journal | volume = 30 | issue = 13 | pages = 2675–89 | date = Jul 2011 | pmid = 21572392 | pmc = 3155294 | doi = 10.1038/emboj.2011.155 }}
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