UNC80 gene

unc-80 homolog, NALCN channel complex subunit

The UNC80 gene provides instructions for making a large protein that is important in the functioning of a sodium channel called NALCN. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. The UNC80 protein forms a bridge between NALCN and another protein called UNC79; along with several other molecules, these proteins group together to form a functional NALCN channel complex (channelosome). UNC80 also helps locate and stabilize the NALCN channelosome in the cell membrane of nerve cells (neurons). The channelosome helps regulate the activity level (excitability) of these cells.

At least 10 UNC80 gene mutations have been identified in people with UNC80 deficiency, a disorder that causes severe nervous system and developmental problems that are apparent from birth or early infancy. The mutations that occur in people with this disorder result in absence of the UNC80 protein or production of an abnormal protein. Absence of functional UNC80 protein impairs the stability and function of the NALCN channelosome. Neuron excitability is thought to be improperly regulated as a result, but it is unclear how these changes cause the specific features of UNC80 deficiency.

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

Molecular Location: base pairs 209,771,832 to 209,999,300 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 2q34, which is the long (q) arm of chromosome 2 at position 34
  • C2orf21
  • FLJ33496
  • KIAA1843
  • protein unc-80 homolog isoform 1
  • protein unc-80 homolog isoform 2
  • UNC-80
  • unc-80 homolog, NALCN activator