SLC10A6
SLC10A6 Gene: A Comprehensive Overview
Description
The SLC10A6 gene, also known as the Solute Carrier Family 10 Member 6 gene, encodes a protein that plays a crucial role in the transport of bile acids, organic anions, and xenobiotics across cell membranes. It belongs to the solute carrier family 10, which comprises membrane proteins involved in the transport of various molecules, including sugars, amino acids, and drugs.
The SLC10A6 protein is primarily expressed in the liver, where it localizes to the canalicular membrane of hepatocytes. It facilitates the excretion of bile acids from the liver into the bile, aiding in the detoxification and elimination of waste products. Additionally, SLC10A6 is found in other tissues, such as the kidney, intestine, and placenta, where it contributes to the transport of bile acids and other substrates.
Associated Diseases
Mutations in the SLC10A6 gene have been linked to several disorders, including:
- Progressive Familial Intrahepatic Cholestasis (PFIC) Type 3: This is a rare liver disorder characterized by impaired bile flow within the liver. Mutations in the SLC10A6 gene are responsible for approximately 15-20% of PFIC cases.
- Byler Disease: A severe form of PFIC that manifests in infancy. Mutations in SLC10A6 are the primary cause of Byler disease.
- Drug-Induced Liver Injury (DILI): Certain drugs can disrupt the function of SLC10A6, leading to liver damage. For instance, the antibiotic erythromycin has been associated with SLC10A6-mediated DILI.
Did you Know ?
According to research, mutations in the SLC10A6 gene are estimated to occur in approximately 1 in 50,000 individuals worldwide. However, the prevalence of these mutations varies significantly across different populations. For example, in certain Asian countries, the frequency of SLC10A6 mutations in PFIC patients is notably higher.
