CHRND

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. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Feb 2012]

Description

cholinergic receptor, nicotinic, delta (muscle)

Protein family

Membrane proteins predicted by MDM, Secreted proteins predicted by MDSP, Transporters

Chromosome

2:q37.1 (233390703 - 233401377)

Ensembl ID

ENSG00000135902  (ver. 69.37)

Orthologs

Mouse Chrnd: ENSMUSG00000026251

Human splice variants
Mouse splice variants