GJA5
Protein found in humans
Gap junction alpha-5 protein (GJA5), also known as connexin 40 (Cx40), is a protein that in humans is encoded by the GJA5 gene.
01Function
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described.
GJA5 has been identified as the gene that is responsible for the phenotypes observed with congenital heart diseases on the 1q21.1 location. In case of a duplication of GJA5 tetralogy of Fallot is more common. In case of a deletion other congenital heart diseases than tetralogy of Fallot are more common.
Sources and credits
This article is adapted from the Wikipedia article “GJA5”, 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 1.svg by National Center for Biotechnology Information, U.S. National Library of Medicine, Public domain
Fathomly is not affiliated with or endorsed by the Wikimedia Foundation. Spotted a problem? Tell us.
