Gene Symbol | UNC80 |
Entrez Gene ID | 285175 |
Full Name | unc-80 homolog, NALCN channel complex subunit |
Synonyms | C2orf21,UNC-80 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3) |