GNAL

This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants.

Full Name

G protein subunit alpha L

Function

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters.

Biological Process

Adenylate cyclase-activating dopamine receptor signaling pathway Source: GO_Central
Adenylate cyclase-modulating G protein-coupled receptor signaling pathway Source: GO_Central
Sensory perception of chemical stimulus Source: GO_Central
Signal transduction Source: ProtInc

Cellular Location

Extracellular exosome; Heterotrimeric G-protein complex; Plasma membrane

Involvement in disease

Dystonia 25 (DYT25):
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs.