Preferred Label : CHRNA1 wt Allele;
NCIt synonyms : Acetylcholine Receptor, Muscle, Alpha Subunit Gene; Cholinergic Receptor Nicotinic Alpha 1 Subunit wt Allele; Cholinergic Receptor, Nicotinic, Alpha 1 (Muscle) Gene; CHNRA; CMS2A; Cholinergic Receptor, Nicotinic, Alpha Polypeptide 1 (Muscle) Gene; Cholinergic Receptor, Nicotinic Alpha 1 Gene; Nicotinic Acetylcholine Receptor Alpha Subunit Gene; CHRNA; Nicotinic Cholinergic Receptor Alpha 1 Gene; Acetylcholine Receptor, Nicotinic, Alpha 1 (Muscle) Gene; FCCMS; Muscle Nicotinic Acetylcholine Receptor Gene; ACHRA; Cholinergic Receptor, Nicotinic Alpha Polypeptide 1 Gene; ACHRD; SCCMS; CMS1A; CMS1B;
NCIt definition : Human CHRNA1 wild-type allele is located in the vicinity of 2q31.1 and is approximately
40 kb in length. This allele, which encodes acetylcholine receptor subunit alpha protein,
plays a role in neurotransmitter-gated ion transport. Mutations in the gene are associated
with lethal type multiple pterygium syndrome and congenital myasthenic syndrome types
1A (slow-channel) and 1B (fast-channel).;
GenBank Accession Number : Y00762;
Origin ID : C215691;
OMIM relation
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
