The Effect of Single Nucleotide Variations in the Transmembrane Domain of OATP1B1 on in vitro Functionality.

Wilma KianderKati-Sisko VellonenMelina M MalinenMikko GyntherMarja HagströmMadhushree BhattacharyaSeppo AuriolaJan B KoenderinkHeidi Kidron

Published in: Pharmaceutical research (2021)

Transmembrane helices 2, 4 and 11 appear to be crucial for proper membrane localization and function of OATP1B1. Four of the studied variants were identified as loss-of-function variants and as such could make the individual harboring these variants susceptible to altered pharmacokinetics and adverse effects of substrate drugs.

Keyphrases

copy number
emergency department
dna methylation
gene expression
genome wide
amino acid
electronic health record