Preferred Label : CHRND wt Allele;
NCIt synonyms : FCCMS; Acetylcholine Receptor, Nicotinic, Delta (Muscle) Gene; Cholinergic Receptor, Nicotinic Delta Gene; Acetylcholine Receptor, Muscle, Delta Subunit Gene; Cholinergic Receptor, Nicotinic, Delta Polypeptide Gene; Cholinergic Receptor Nicotinic Delta Subunit wt Allele; CMS3A; CMS3B; ACHRD; CMS2A; SCCMS; CMS3C; Cholinergic Receptor, Nicotinic, Delta Gene; Cholinergic Receptor, Nicotinic, Delta (Muscle) Gene;
NCIt definition : Human CHRND wild-type allele is located in the vicinity of 2q37.1 and is approximately
11 kb in length. This allele, which encodes acetylcholine receptor subunit delta protein,
is involved in the regulation of synaptic transmission at the neuromuscular junction.
Mutations in the gene are associated with lethal type multiple pterygium syndrome
and congenital myasthenic syndrome types 3A (slow-channel), 3B (fast-channel) and
3C (acetylcholine receptor deficient).;
GenBank Accession Number : X55019;
Origin ID : C215694;
OMIM relation
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
