The marked increases of Cyp7a1 and Ntcp expressions have been observed in the liver with decreased BAs of the patients with cerebrotendinous xanthomatosis which is the inherited deficiency of key-enzyme (sterol 27-hydroxylase) in BA synthesis, although the FXR–SHP pathway was normally activated [57]. Here, NR1H4 is linked to cerebrotendinous xanthomatosis.