Recombinant Human Acetylcholine receptor subunit epsilon (CHRNE), Truncated

Uniprot Id

Q04844

Target Species

Human

Target Name

CHRNE

Target Full Name

Acetylcholine receptor subunit epsilon

Target Function

After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

Target Involvement

Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A); Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B); Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C)

Target Subcellular Location

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Target Protein Families

Ligand-gated ion channel (TC 1.A.9) family, Acetylcholine receptor (TC 1.A.9.1) subfamily, Epsilon/CHRNE sub-subfamily

Target Research Area

Others

Target Synonyms

CHRNE; ACHRE; Acetylcholine receptor subunit epsilon

Target Background

Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome.