HECW2 explained

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 is a protein that in humans is encoded by the HECW2 gene.^[1]

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.^[2]

Further reading

• Miyazaki K, Ozaki T, Kato C, Hanamoto T, Fujita T, Irino S, Watanabe K, Nakagawa T, Nakagawara A . A novel HECT-type E3 ubiquitin ligase, NEDL2, stabilizes p73 and enhances its transcriptional activity . Biochemical and Biophysical Research Communications . 308 . 1 . 106–13 . Aug 2003 . 12890487 . 10.1016/s0006-291x(03)01347-0 .
• Cui Y, He S, Xing C, Lu K, Wang J, Xing G, Meng A, Jia S, He F, Zhang L . SCFFBXL¹⁵ regulates BMP signalling by directing the degradation of HECT-type ubiquitin ligase Smurf1 . The EMBO Journal . 30 . 13 . 2675–89 . Jul 2011 . 21572392 . 3155294 . 10.1038/emboj.2011.155 .

Notes and References

1. Web site: Entrez Gene: HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 . 2014-10-24 .
2. 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 . Mutations in HECW2 are associated with intellectual disability and epilepsy . Journal of Medical Genetics . 53. 10. 697–704. 2016 . 27334371 . 10.1136/jmedgenet-2016-103814 . 5099177.