CHRND
Template:Short description Template:Infobox gene Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene.[1]
Function
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.[1]
Interactions
CHRND has been shown to interact with Cholinergic receptor, nicotinic, alpha 1.[2][3]
Clinical significance
Mutations in CHRND are known to cause the following conditions:[4]
- 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).
See also
References
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Further reading
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External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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