CHRND

Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene.

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.

Interactions

CHRND has been shown to interact with Cholinergic receptor, nicotinic, alpha 1.

Clinical 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).

See also

• Nicotinic acetylcholine receptor

External links

• CHRND+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human CHRND genome location and CHRND gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.