HECW2
Protein-coding gene in the species Homo sapiens
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 is a protein that in humans is encoded by the HECW2 gene.
01Clinical 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.
Sources and credits
This article is adapted from the Wikipedia article “HECW2”, written by its contributors and licensed under CC BY-SA 4.0. Fathomly has changed the layout, removed citation markers, navigation and maintenance notices, and adjusted punctuation. This adapted version is shared under the same license. For references, see the original article.
Images, from Wikimedia Commons:
- Ideogram human chromosome 2.svg by National Center for Biotechnology Information, U.S. National Library of Medicine, Public domain
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