HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 is a protein that in humans is encoded by the HECW2 gene.[5]
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.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000138411 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042807 – Ensembl, May 2017
- ^ “Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ “Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ “Entrez Gene: HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2”. Retrieved 2014-10-24.
- ^ 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 (2016). “Mutations in HECW2 are associated with intellectual disability and epilepsy”. Journal of Medical Genetics. 53 (10): 697–704. doi:10.1136/jmedgenet-2016-103814. PMC 5099177. PMID 27334371.
Further reading
- Miyazaki K, Ozaki T, Kato C, Hanamoto T, Fujita T, Irino S, Watanabe K, Nakagawa T, Nakagawara A (Aug 2003). “A novel HECT-type E3 ubiquitin ligase, NEDL2, stabilizes p73 and enhances its transcriptional activity”. Biochemical and Biophysical Research Communications. 308 (1): 106–13. doi:10.1016/s0006-291x(03)01347-0. PMID 12890487.
- Cui Y, He S, Xing C, Lu K, Wang J, Xing G, Meng A, Jia S, He F, Zhang L (Jul 2011). “SCFFBXL¹⁵ regulates BMP signalling by directing the degradation of HECT-type ubiquitin ligase Smurf1”. The EMBO Journal. 30 (13): 2675–89. doi:10.1038/emboj.2011.155. PMC 3155294. PMID 21572392.