Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

doi:10.1038/s41598-017-07012-2

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Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

Scientific reports - 23 Aug 2017

Liu Ruihong, Chen Chuming, Xia Xuefeng, Liao Qijun, Wang Qiong, Newcombe Paul J, Xu Shuhua, Chen Minghui, Ding Yue, Li Xiaoying, Liao Zhihong, Li Fucheng, Du Minlian, Huang Huaiqiu, Dong Ruimin, Deng Weiping, Wang Ye, Zeng Binghui, Pan Qihao, Jiang Danhua, Zeng Hao, Sham Pak, Cao Yingnan, Maxwell Patrick H, Gao Zhi-Liang, Peng Liang, Wang Yiming

Abstract excerpt

SLC10A1 codes for the sodium-taurocholate cotransporting polypeptide (NTCP), which is a hepatocellular transporter for bile acids (BAs) and the receptor for hepatitis B and D viruses. NTCP is also a target of multiple drugs. We aimed to evaluate the medical consequences of the loss of function mutation p.Ser267Phe in SLC10A1. We identified eight individuals with homozygous p.Ser267Phe mutation in SLC10A1 and...

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PMID: 28835676
DOI: 10.1038/s41598-017-07012-2
PMCID: PMC5569087

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