CHRND
# 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).
