Relevance to Autism

A rare deletion in the CHRNA7 gene has been identified with developmental delay and intellectual disability (Mikhail et al., 2011). In addition, a rare CHRNA7 duplication was found in two patients with autism and intellectual disability (Leblond et al., 2012).

Molecular Function

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

External Links

References