CHRNA3
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.
Involvement in disease
Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT
BAIPRCK
An autosomal recessive disease characterized by impaired innervation and autonomic dysfunction of the urinary bladder, hydronephrosis, vesicoureteral reflux, small kidneys, recurrent urinary tract infections, and progressive renal insufficiency. Additional autonomic features are impaired pupillary reflex and orthostatic hypotension. The disease manifests in utero or early childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated; by STUB1/CHIP and thereafter degraded by the 26S proteosome complex.
Sequence Similarities
Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-3/CHRNA3 sub-subfamily.
Cellular localization
- Postsynaptic cell membrane
- Multi-pass membrane protein
- Cell membrane
- Multi-pass membrane protein
- Endoplasmic reticulum
- Golgi apparatus
- Interaction with UBXN2A/UBXD4 promotes translocation to the plasma membrane.
Alternative names
NACHRA3, CHRNA3, Neuronal acetylcholine receptor subunit alpha-3