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Article

SLCO1B1 and SLCO1B3 genetic mutations in Taiwanese patients with Rotor syndrome.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jul 2023

Cheng Ya-Yuan, Chang Kai-Chi, Chen Pei-Lung, Yeung Chun-Yan, Liou Bang-Yu, Chen Huey-Ling

Abstract excerpt

Rotor syndrome is a rare, benign, inherited disorder that is commonly associated with mild hyperbilirubinemia. It is caused by bi-allelic pathological variants in both SLCO1B1 and SLCO1B3 genes, causing defective OATP1B1 and OATP1B3 in the sinusoidal membrane and interrupted bilirubin uptake of the hepatocytes. We report five Taiwanese pediatric and adult patients aged 5-32 years presenting with conjugated...

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Child
Hyperbilirubinemia
Infant, Newborn
Liver-Specific Organic Anion Transporter 1
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Organic Anion Transporters

Organic Anion Transporters, Sodium-Independent

Solute Carrier Organic Anion Transporter Family Member 1B3

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PMID: 36964102
DOI: 10.1016/j.jfma.2023.03.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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