SLC8B1

SLC8B1 is a gene that encodes the protein Sodium/calcium exchanger 3 (NCX3). This protein is a member of the solute carrier family of proteins, specifically the SLC8 family. The SLC8 family is responsible for the transport of sodium and calcium ions across the cell membrane, a process that is crucial for maintaining cellular homeostasis.

Function

The SLC8B1 gene encodes the NCX3 protein, which is primarily expressed in the brain and heart. This protein plays a crucial role in maintaining the balance of sodium and calcium ions within cells. It does this by using the energy from the flow of sodium ions into the cell to pump calcium ions out of the cell. This process is essential for a variety of cellular functions, including muscle contraction, nerve impulse transmission, and cell signaling.

Clinical Significance

Mutations in the SLC8B1 gene have been associated with a variety of medical conditions. For example, alterations in the function of the NCX3 protein can lead to an imbalance of sodium and calcium ions within cells, which can in turn lead to cell death. This has been implicated in a variety of neurological disorders, including Alzheimer's disease and Parkinson's disease. Additionally, changes in the function of the NCX3 protein can also affect heart function, potentially leading to conditions such as heart failure and arrhythmia.

Research

Research into the SLC8B1 gene and the NCX3 protein is ongoing, with scientists seeking to better understand the role of this gene and protein in health and disease. This research could potentially lead to new treatments for a variety of conditions, including neurological disorders and heart disease.

File:SLC8B1 gene location on human chromosome 14.png

Location of the SLC8B1 gene on human chromosome 14.

See Also

• Solute carrier family
• Sodium-calcium exchanger
• Cell membrane
• Cellular homeostasis
• Alzheimer's disease
• Parkinson's disease
• Heart failure
• Arrhythmia

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