EFCAB6
efcab6: A Rare and Mysterious Genetic Variant
Description:
efcab6 is a rare genetic variant located on the long arm of chromosome 16. It is part of a group of genes known as the ATP-binding cassette (ABC) transporters, which are responsible for transporting various molecules across cell membranes. The efcab6 variant specifically encodes a protein involved in the transport of bile acids, essential for digesting fats in the body.
Associated Diseases:
Mutations in the efcab6 gene have been linked to a rare inherited liver disease called progressive familial intrahepatic cholestasis type 3 (PFIC3). PFIC3 is characterized by a progressive buildup of bile acids in the liver, leading to chronic liver inflammation, fibrosis, and eventually cirrhosis. Symptoms of PFIC3 typically manifest in infancy and include jaundice, itchy skin, and abdominal pain. Without early diagnosis and treatment, PFIC3 can lead to liver failure and the need for a liver transplant.
Did you Know ?
The prevalence of efcab6 mutations varies significantly across different populations. It is most common in Scandinavia, where it affects approximately 1 in 50,000 people. In other parts of the world, including the United States, the prevalence is estimated to be much lower, at around 1 in 200,000 to 1 in 500,000.
