ABCB4 gene has been observed progressively downregulated in
human papillomavirus-positive
neoplastic keratinocytes derived from uterine cervical
preneoplastic lesions at different levels of malignancy. For this reason, ABCB4 is likely to be associated with tumorigenesis and may be a potential prognostic marker for uterine cervical
preneoplastic lesions progression. Other conditions that have been associated with mutations in this gene include
low phospholipid associated cholelithiasis syndrome, high gamma glutamyl transferase intrahepatic cholestasis of pregnancy, chronic cholangiopathy and adult biliary fibrosis. ==References==