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GENATLAS PHENOTYPE
last update : 07-11-2009
Symbol PFIC2
Location 2q24.1
Name cholestasis progressive familial (severe) intrahepatic 2
Other name(s) Byler disease
Corresponding gene ABCB11
Other symbol(s) BRIC2
Main clinical features
  • characterized by high serum bile concentration, with intermittent jaundice, normal serum gamma-glutamyltransferase and cholesterol and low biliary bile concentrations, without extrahepatic manifestations
    • Genetic determination autosomal recessive
    Related entries including benign recurrent intrahepatic cholestasis (BRIC)
    Function/system disorder digestive tract/liver and annex
    Type disease
    Gene product
    Name bile salt export pump (ABCB11)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function E297G and D482G, mostly frequent, mutations resulting in impaired membrane trafficking, whereas the transport functions of these mutants remain largely unchanged
    Remark(s) . benign recurrent intrahepatic cholestasis emanates from a partially functional ATP8B1 protein (Frankenberg 2008)