Benign recurrent intrahepatic cholestasis 1

What causes benign recurrent intrahepatic cholestasis 1 (BRIC1)?

Mutations in the ATP8B1 gene cause BRIC1. The ATP8B1 gene provides instructions for making a protein that helps to control the distribution of certain fats, called lipids, in the membranes of liver cells. This function likely plays a role in maintaining an appropriate balance of bile acids, a component of bile. This process, known as bile acid homeostasis, is critical for the normal secretion of bile and the proper functioning of liver cells. Although the mechanism is unclear, mutations in the ATP8B1 gene result in the buildup of bile acids in liver cells. The imbalance of bile acids leads to the signs and symptoms of BRIC1. The factors that trigger episodes of BRIC are unknown.

Last updated on 05-01-20

How is benign recurrent intrahepatic cholestasis 1 (BRIC1) inherited?

BRIC1 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Some people with BRIC1 have no family history of the disorder. These cases arise from mutations in the ATP8B1 gene that occur in the body's cells after conception and are not inherited.

Last updated on 05-01-20

Name: American Liver Foundation 39 Broadway, Suite 2700
New York, NY, 10006, United States
Phone: +1-212-668-1000 Toll Free: +1-800-465-4837 (Helpline) Email: Url:

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