SLCO1B3

该基因编码有机阴离子转运蛋白家族的肝脏特异性成员。编码蛋白是一种跨膜受体，介导内源性和外源性化合物的钠独立摄取，在胆汁酸和胆红素转运中起关键作用。该基因突变是转子型高胆红素血症的原因之一。该基因的选择性剪接和选择性启动子的使用导致编码不同亚型的转录变体，其组织特异性不同。[由RefSeq提供，2017年3月]
This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity. [provided by RefSeq, Mar 2017]