Gene: CHRNG

Alternate names for this Gene: ACHRG

Gene Summary: The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.1

Description of this Gene: cholinergic receptor nicotinic gamma subunit

Type of Gene: protein-coding

rs1881492 in CHRNG gene and Abnormality of refraction PMID 23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

rs797044677 in CHRNG gene and Dysmorphic features PMID 22167768 2012 CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

PMID 25957469 2015 Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

PMID 16826531 2006 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

PMID 24038971 2013 Neuromotor synapses in Escobar syndrome.

PMID 27245440 2016 Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

rs121912670 in CHRNG gene and MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE PMID 16826531 2006 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

PMID 16826520 2006 Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

rs797044677 in CHRNG gene and Multiple congenital anomalies PMID 24038971 2013 Neuromotor synapses in Escobar syndrome.

PMID 16826531 2006 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

PMID 22167768 2012 CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

PMID 27245440 2016 Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

PMID 25957469 2015 Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

rs121912670 in CHRNG gene and Multiple pterygium syndrome PMID 16826520 2006 Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

PMID 16826531 2006 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

rs1881492 in CHRNG gene and Refractive Errors PMID 23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.