Structural highlights
Disease
UNC80_HUMAN Hypotonia-speech impairment-severe cognitive delay syndrome. The disease is caused by variants affecting the gene represented in this entry.
Function
UNC80_HUMAN Auxiliary subunit of the NALCN sodium channel complex, a voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability (By similarity). Activated by neuropeptides substance P, neurotensin, and extracellular Ca(2+) that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current. UNC80 is essential for NALCN sensitivity to extracellular Ca(2+) (By similarity).[UniProtKB:Q8BLN6]
See Also
