ATP8B1 : ATPase phospholipid transporting 8B1

Description

The ATP8B1 gene provides instructions for making a protein called phospholipid flippase. This protein is found in the liver, where it plays a crucial role in the transport of phospholipids across the membranes of bile canaliculi. Bile canaliculi are tiny channels that carry bile, a fluid produced by the liver that aids in digestion, from liver cells to the gallbladder. The phospholipid flippase moves phospholipids from the inner layer of the bile canalicular membrane to the outer layer, a process essential for maintaining the integrity and fluidity of the membrane. This ensures that bile can flow smoothly and efficiently through the canaliculi and into the gallbladder. Mutations in the ATP8B1 gene can disrupt this process, leading to a buildup of bile in the liver, which can cause serious health problems.

Associated Diseases

• Progressive familial intrahepatic cholestasis type 1 (PFIC1)
• Intrahepatic cholestasis of pregnancy (ICP)
• Benign recurrent intrahepatic cholestasis (BRIC)
• Dubin-Johnson syndrome

Did you know?

Mutations in the ATP8B1 gene can have variable effects, ranging from mild to severe, depending on the specific mutation and individual genetic background.