Identification and functional characterization of CYP4V2 genetic variants exhibiting decreased activity of lauric acid metabolism

• Published in: Annals of human genetics Vol. 84; no. 5; pp. 400 - 411
• Main Authors: Jarrar, Yazun Bashir, Shin, Jae‐Gook, Lee, Su‐Jun
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.09.2020
• Subjects: Adult; Amino Acid Sequence; Asian Continental Ancestry Group - genetics; CYP4V2; CYP4V2 function; Cytochrome P450 Family 4 - genetics; Genetic diversity; genetic variants; Haplotypes; Humans; Lauric acid; Lauric Acids - metabolism; Linkage Disequilibrium; Metabolism; Oxidation; Phenotype; Phenotypes; Phenotypic variations; Polymorphism, Single Nucleotide; Republic of Korea; single nucleotide polymorphisms; Young Adult; Republic of Korea; genetic variants; CYP4V2 function; lauric acid; single nucleotide polymorphisms; CYP4V2
• ISSN: 0003-4800; 1469-1809; 1469-1809
• DOI: 10.1111/ahg.12388

The objectives of the present study were to identify CYP4V2 genetic variants and characterize their functional consequences. A total of 26CYP4V2 genetic variants were identified, including seven novel variants in 60 randomly selected healthy subjects. Six protein‐coding variants were studied, includ...