CHRND
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene.[5]
AliasesCHRND, ACHRD, CMS2A, FCCMS, SCCMS, CMS3A, CMS3B, CMS3C, cholinergic receptor nicotinic delta subunit
External IDsOMIM: 100720; MGI: 87893; HomoloGene: 37340; GeneCards: CHRND; OMA:CHRND - orthologs
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.[5]
Interactions
CHRND has been shown to interact with Cholinergic receptor, nicotinic, alpha 1.[6][7]
Clinical significance
Mutations in CHRND are known to cause the following conditions:[8]
- 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).
