Rabbit anti-Human CHRND Polyclonal Antibody

Uniprot Id

Q07001

Target Species

Human

Target Name

CHRND

Target Full Name

Acetylcholine receptor subunit delta

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

Multiple pterygium syndrome, lethal type (LMPS); Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A); Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B); Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C)

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, Delta/CHRND sub-subfamily

Target Synonyms

ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS; SCCMS; CHRND

Target Background

The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene.