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'''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 ==
<references />

== External links ==
* [https://www.ncbi.nlm.nih.gov/gene/5244 ABCB4] at the National Center for Biotechnology Information

[[Category:Genes]]
[[Category:Human proteins]]
[[Category:ATP-binding cassette transporters]]

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ABCB4 - Revision history

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Prab: CSV import