Condition: Rotor Syndrome


rs71581941 in SLCO1B1 gene and Rotor Syndrome PMID 25546334 2015 Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype.

PMID 18159134 2007 Genetic variations and frequencies of major haplotypes in SLCO1B1 encoding the transporter OATP1B1 in Japanese subjects: SLCO1B1*17 is more prevalent than *15.

PMID 22232210 2012 Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.