SLC27A1
The SLC27A1 Gene: A Gateway to Understanding Fatty Acid Metabolism and Beyond
Description
The Solute Carrier Family 27 Member 1 (SLC27A1) gene encodes a protein crucial for the transport of fatty acids across cell membranes. This gene plays a vital role in energy metabolism, cellular homeostasis, and various physiological processes.
The SLC27A1 protein, known as the fatty acid transport protein 1 (FATP1), is located on the plasma membrane and facilitates the uptake of long-chain fatty acids from the bloodstream into cells. These fatty acids serve as the primary energy source for many tissues, especially the heart and muscle cells.
Associated Diseases
Mutations in the SLC27A1 gene have been linked to several diseases, including:
- Fatty acid transport deficiency (FATD): A rare genetic disorder characterized by an inability to transport fatty acids into cells. FATD can cause severe neurological, cardiac, and metabolic problems.
- Zellweger syndrome spectrum disorders: A group of rare genetic disorders that affect the peroxisomes, organelles responsible for various metabolic functions. SLC27A1 mutations can disrupt fatty acid transport into peroxisomes, impairing their essential functions.
- Heart disease: Impaired fatty acid transport due to SLC27A1 mutations has been associated with an increased risk of heart disease.
Did you Know ?
In patients with FATD, SLC27A1 mutations account for approximately 70% of cases. This highlights the critical role of this gene in fatty acid transport and its profound impact on human health.
