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Primary Biliary Cholangitis (PBC)
Loss of Function

Primary Biliary Cholangitis (PBC)

  • Genotype

    ppp1r21

  • Mechanism

    Loss of Function

  • Phenotype

    Fatigue, Motor dysfunction, Irritability,Cognitive deficits, Sleep disturbances

  • Biomarker

    AST, ALT, ALP, Bilirubin, Total cholesterol, HDL

  • Gene Expression Markers

    ABCB11 ,SLC10A1, ABCC2, KRT19, SOX9, IL6, TNF, IFNG, CXCL10, SOD1, GPX1, BAX

  • Physiology Changes

    Enlarged liver, Cirrhosis, Lethargy, Cholestasis

  • Histology Grading Endpoint

    Dense lymphocytic infiltration in portal tracts, Cholangiocyte degeneration, Accumulation of bile pigments in hepatocytes, Fibrosis, Cirrhosis

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