Aliases for GNAL Gene
External Ids for GNAL Gene
Previous GeneCards Identifiers for GNAL Gene
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. [provided by RefSeq, Dec 2013]
GeneCards Summary for GNAL Gene
GNAL (Guanine Nucleotide Binding Protein (G Protein), Alpha Activating Activity Polypeptide, Olfactory Type) is a Protein Coding gene. Diseases associated with GNAL include autosomal dominant focal dystonia, dyt25 and dystonia 25. Among its related pathways are Signaling by GPCR and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAS.
UniProtKB/Swiss-Prot for GNAL Gene
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
Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.