Defective SLCO1B1 does not transport BIL from extracellular region (blood) to cytosol (hepatocyte)

The solute carrier organic anion transporter family member 1B1 (SLCO1B1) is expressed on the basolateral surfaces of hepatocytes and mediates the uptake of bilirubin (BIL), a breakdown product of heme degradation, to the liver where it is conjugated and excreted from the body. Defects in SLCO1B1 can cause hyperbilirubinemia, Rotor type (HBLRR; MIM:237450), an autosomal recessive form of primary conjugated hyperbilirubinemia. Mild jaundice, not associated with hemolysis, develops shortly after birth or in childhood. Mutations in SLCO1B1 that can cause HBLRR include R580* and R253* (van de Steeg et al. 2012).

有机阴离子转运蛋白家族成员1B1（SLCO1B1）在肝细胞基底外侧膜上表达，介导胆红素（BIL，血红素降解的代谢产物）的摄取至肝脏，胆红素在肝脏中发生结合并被排出体外。SLCO1B1基因的缺陷可能导致高胆红素血症，罗托型（HBLRR；MIM:237450），这是一种常染色体隐性遗传的原发性结合型高胆红素血症。轻度黄疸，不伴随溶血，通常在出生后或儿童时期出现。可引起HBLRR的SLCO1B1突变包括R580*和R253*（van de Steeg等，2012年）。