The diagnosis of PBC is confirmed through a combination of the following criteria: [1] persistent elevation of cholestatic liver enzymes, including alkaline phosphatase (ALP); [2] detection of antimitochondrial antibodies (AMA) or PBC‐specific anti‐nuclear (ANA) autoantibodies (anti‐sp100 or anti‐gp210); and/or [3] typical histopathology features at liver biopsy [7]. The gene discussed is SP100; the disease is primary biliary cholangitis.