Gene: CHRND

Alternate names for this Gene: ACHRD|CMS2A|CMS3A|CMS3B|CMS3C|FCCMS|SCCMS

Gene Summary: 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 encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.1

Description of this Gene: cholinergic receptor nicotinic delta subunit

Type of Gene: protein-coding

rs121909505 in CHRND gene and MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE PMID 18252226 2008 Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

rs121909502 in CHRND gene and MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL PMID 8872460 1996 New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

PMID 11782989 2002 Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.

rs121909503 in CHRND gene and MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL PMID 18398509 2008 Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.

PMID 12499478 2002 Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.

PMID 11435464 2001 Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

rs145955590 in CHRND gene and MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY PMID 16916845 2006 CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

PMID 18398509 2008 Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.