ABCB4

ABCB4 is a gene in humans that encodes a protein called the ATP-binding cassette sub-family B member 4. This protein is a member of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intra-cellular membranes.

Function

The protein encoded by the ABCB4 gene is involved in the secretion of phosphatidylcholine into bile, which is essential for the emulsification and solubilization of dietary fats. Mutations in this gene have been associated with various forms of intrahepatic cholestasis, a condition characterized by the accumulation of bile in the liver.

Clinical significance

Mutations in the ABCB4 gene can lead to several diseases, including progressive familial intrahepatic cholestasis type 3 (PFIC3), intrahepatic cholestasis of pregnancy (ICP), and drug-induced liver injury (DILI). These conditions are characterized by impaired bile flow and can lead to severe liver damage.

See also

• ATP-binding cassette transporter
• Intrahepatic cholestasis of pregnancy
• Progressive familial intrahepatic cholestasis

References

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External links

• ABCB4 at the National Center for Biotechnology Information

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