Dubin-Johnson syndrome

Definition:

Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder characterized by chronic conjugated hyperbilirubinemia and impaired hepatobiliary transport of non-bile salt organic anions. It is caused by mutations in ABCC2, a canalicular bilirubin glucuronide and xenobiotic export pump.

References:

[1]. Lenka Slachtova, et al. Genetic and biochemical study of dual hereditary jaundice: Dubin-Johnson and Gilbert's syndromes. Haplotyping and founder effect of deletion in ABCC2. Eur J Hum Genet. 2016 May;24(5):704-9. [Content Brief]

[2]. S Kajihara, et al. A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome. Biochem Biophys Res Commun. 1998 Dec 18;253(2):454-7. [Content Brief]

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