Preparation and Storage
Background: Nicotinic Acetylcholine R alpha 1/CHRNA1
The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha isoforms and 1 each of beta, gamma, and delta subunits. CHRNA1 is an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. Isoform 1 is only expressed in skeletal muscle. Isoform 2 is constitutively expressed in skeletal muscle, brain, heart, kidney, liver, lung and thymus. Defects in CHRNA1 are a cause of multiple pterygium syndrome lethal type (MUPSL). Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome.
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Long Name:
Nicotinic Acetylcholine Receptor alpha 1
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Alternate Names:
acetylcholine receptor subunit alpha; ACHRA; ACHRD; CHNRA; cholinergic receptor, nicotinic, alpha 1 (muscle); CHRNA; CHRNA1; CMS2A; FCCMS; nAChR alpha 1; nAchRa1; Nicotinic Acetylcholine R alpha 1 ; Nicotinic Acetylcholine Ra1 ; nicotinic acetylcholine receptor alpha subunit; nicotinic cholinergic receptor alpha 1; nicotinic, alpha polypeptide 1 (muscle); SCCMS