UNC80 gene

unc-80 homolog, NALCN activator

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 2

From UniProt:

Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2): An autosomal recessive, neurodegenerative disease characterized by severe truncal hypotonia since birth or early infancy, progressive peripheral spasticity, and profound psychomotor developmental delay. Some patients may have seizures. [MIM:616801]

Cytogenetic Location: 2q34, which is the long (q) arm of chromosome 2 at position 34

Molecular Location: base pairs 209,771,925 to 209,999,300 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q34, which is the long (q) arm of chromosome 2 at position 34
  • C2orf21
  • UNC-80