Reactome | UNC79:UNC80:NALCN transports Na+ extracellular region to cytosol

UNC79:UNC80:NALCN transports Na+ extracellular region to cytosol

Stable Identifier

R-HSA-2730664

Type

Reaction [transition]

Species

Homo sapiens

Compartment

cytosol, extracellular region, plasma membrane

ReviewStatus

5/5

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UNC79:UNC80:NALCN transports Na+ extracellular region to cytosol

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The sodium leak channel non-selective protein NALCN, a nonselective cation channel, forms the background Na+ leak conductance and controls neuronal excitability (Lu et al. 2007, Ren 2011). Mice with mutant NALCN have a severely disrupted respiratory rhythm and die within 24 hours of birth. Calcium (Ca2+) influences neuronal excitability via the NALCN:UNC79:UNC80 complex, with high Ca2+ concentrations inhibiting transport of Na+ (Lu et al. 2010). Mutations in human NALCN lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia and developmental delay (CLIFAHDD) (Bouasse et al. 2019).

Literature References

PubMed ID	Title	Journal	Year
17448995	The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm Ren, D, Su, Y, Lu, B, Xia, J, Das, S, Liu, J	Cell	2007
21040849	Extracellular calcium controls background current and neuronal excitability via an UNC79-UNC80-NALCN cation channel complex Ren, D, Lu, B, Wang, H, Zhang, Q, Nakayama, M, Wang, Y	Neuron	2010