SCNN1D
The SCNN1D Gene: A Gateway to Understanding Ion Channels and Human Health
Description
The SCNN1D gene provides instructions for making a protein called the epithelial sodium channel (ENaC) subunit delta. This channel is located in the membranes of cells that line the surfaces of the body, such as the skin, lungs, and kidneys. ENaC is responsible for regulating the transport of sodium ions across these cell membranes.
Sodium ions are essential for maintaining the proper balance of fluids and electrolytes in the body. They also play a role in muscle contraction, nerve conduction, and blood pressure regulation. By controlling the flow of sodium ions, ENaC contributes to a wide range of physiological processes.
Associated Diseases
Mutations in the SCNN1D gene can lead to a group of rare genetic disorders known as the salt-losing tubulopathies. These disorders are characterized by an inability of the kidneys to conserve sodium, leading to excessive sodium loss in the urine.
The most common salt-losing tubulopathy caused by SCNN1D mutations is called pseudohypoaldosteronism type 1 (PHA1). Symptoms of PHA1 can include:
- Severe dehydration
- Failure to thrive in infants
- Low blood pressure
- Muscle weakness
- Metabolic acidosis
Did you Know ?
Approximately 1 in 5,000 people worldwide have a salt-losing tubulopathy caused by SCNN1D mutations. This makes these disorders relatively rare, but they can have a significant impact on the lives of those affected.
