ABCB11

ABCB11 is a gene in humans that encodes a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. The protein encoded by this gene is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent bile salt export pump involved in the secretion of bile salts into the bile canaliculi of hepatocytes. Mutations in this gene have been associated with progressive familial intrahepatic cholestasis type 2 (PFIC2) and benign recurrent intrahepatic cholestasis type 2 (BRIC2).

Function

The ABCB11 gene provides instructions for making a protein called bile salt export pump (BSEP), which is found in liver cells. It plays a crucial role in the flow of bile, a fluid that helps in digestion and absorption of fats. The BSEP protein transports bile salts (which are made from cholesterol) from liver cells into bile canaliculi, from where it moves to the gallbladder.

Clinical significance

Mutations in the ABCB11 gene can lead to conditions such as progressive familial intrahepatic cholestasis type 2 (PFIC2) and benign recurrent intrahepatic cholestasis type 2 (BRIC2). These conditions are characterized by the interruption of bile flow (cholestasis), leading to symptoms like jaundice, itching, and slow growth.

See also

• ATP-binding cassette transporter
• Progressive familial intrahepatic cholestasis
• Benign recurrent intrahepatic cholestasis

References

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External links

• NCBI Gene
• Genetics Home Reference

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