Aliases for UNC80 Gene
External Ids for UNC80 Gene
Previous HGNC Symbols for UNC80 Gene
Previous GeneCards Identifiers for UNC80 Gene
The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]
GeneCards Summary for UNC80 Gene
UNC80 (Unc-80 Homolog, NALCN Activator) is a Protein Coding gene. Diseases associated with UNC80 include Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 and Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport.
UniProtKB/Swiss-Prot for UNC80 Gene
Component of the NALCN sodium channel complex, required for channel regulation. This complex is a cation channel activated by neuropeptides substance P, neurotensin, and extracellular calcium that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current. UNC80 is essential for NALCN sensitivity to extracellular calcium.