ATP1B3

ATP1B3 is a gene that encodes a protein known as the beta-3 subunit of the sodium/potassium-transporting ATPase. This protein is a crucial component of the sodium-potassium pump, which is responsible for maintaining the electrochemical gradients of sodium and potassium ions across the plasma membrane of cells. This function is essential for normal cellular function, including neuronal activity and muscle contraction.

Structure

The ATP1B3 gene is located on the long (q) arm of chromosome 3 at position 23. The protein encoded by this gene is a member of the family of Na+/K+ -ATPases beta chain proteins and the ATPase enzyme family. It is composed of 303 amino acids and has a molecular weight of approximately 35 kDa.

Function

The ATP1B3 protein is an integral membrane protein and is responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are necessary for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle.

Clinical significance

Mutations in the ATP1B3 gene have been associated with a variety of medical conditions. For example, it has been linked to hypertension, cardiovascular disease, and certain types of cancer. Additionally, research has suggested a potential role in neurological disorders, such as Parkinson's disease and epilepsy.

See also

• ATP1A1
• ATP1A2
• ATP1A3
• ATP1B1
• ATP1B2