NKAIN1

NKAIN1 is a gene that encodes a protein in humans. This protein is part of the Na+/K+ ATPase complex, which is essential for the maintenance of ion gradients across the plasma membrane. The Na+/K+ ATPase complex is a key component of cellular processes such as cell volume regulation, neuronal excitability, and the transport of nutrients and metabolites.

Function

The protein encoded by the NKAIN1 gene is part of the Na+/K+ ATPase complex. This complex is a pump that uses the energy from ATP hydrolysis to transport sodium ions out of the cell and potassium ions into the cell. This ion transport is essential for maintaining the electrochemical gradient across the plasma membrane, which is necessary for processes such as neuronal excitability, muscle contraction, and heart rate regulation.

Clinical significance

Mutations in the NKAIN1 gene have been associated with certain neurological disorders. For example, a study published in 2018 found that a mutation in this gene was associated with a form of hereditary spastic paraplegia, a group of genetic disorders characterized by progressive weakness and stiffness of the legs.

See also

• Na+/K+ ATPase
• Hereditary spastic paraplegia
• Electrochemical gradient

References

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