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CHRNA4

This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants.
Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Transporters

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Group enriched (Horizontal cells, Hepatocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enriched (U-2 OS)

Interaction

Neuronal AChR is composed of two different types of subunits: alpha and beta. Alpha-4 subunit can be combined to beta-2 or beta-4 to give rise to functional receptors, complexes with beta-2 may be heteropentamers (PubMed:22361591). Interacts with RIC3; which is required for proper folding and assembly (PubMed:16120769). Interacts with LYPD6 (PubMed:27344019). The heteropentamer alpha-4-beta-2 interacts with alpha-conotoxins PnIA, GID and MII (By similarity).

Molecular function

Ion channel, Ligand-gated ion channel, Receptor

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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