CHRND
Protein-coding gene in humans
01Function
The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
02Interactions
CHRND has been shown to interact with Cholinergic receptor, nicotinic, alpha 1.
03Clinical significance
Mutations in CHRND are known to cause the following conditions:
- Multiple pterygium syndrome, lethal type (LMPS);
- Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A);
- Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B);
- Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C).
Sources and credits
This article is adapted from the Wikipedia article “CHRND”, 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
Fathomly is not affiliated with or endorsed by the Wikimedia Foundation. Spotted a problem? Tell us.
