An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.

Eric L Bell¹, Jennifer K Truong², Youhwa Jo², Adrianne Kolpak², Lauren Chunn³, Natalie Syverud³, Melida Mahinic³, Jessica R Durrant⁴, Eitan Hoch², Bharat Reddy², Patrick Stoiber², John P Miller², Yong Ren², Jonathan Moore², Robert O Hughes⁵, Alastair S Garfield²

¹Rectify Pharmaceuticals, Cambridge, MA, USA. Electronic address: ebell@rectifypharma.com.

²Rectify Pharmaceuticals, Cambridge, MA, USA.

³Genomenon, Ann Arbor, MI, USA.

⁴DTR Labs, Farmers Branch, TX, USA.

⁵Rectify Pharmaceuticals, Cambridge, MA, USA. Electronic address: rhughes@rectifypharma.com.

PubMed PMC DOI PDF

Abstract

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare pediatric cholestatic liver disease caused by genetic deficiency in the bile salt export pump (BSEP, ABCB11). BSEP is an ATP-binding cassette transporter and the primary regulator of hepatic bile acid efflux. Loss of BSEP function in PFIC2 leads to cholestasis and intrahepatic accumulation of bile acids, the native toxicity of…

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