Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Annals of human genetics - 1 Sept 2020

Jarrar Yazun Bashir, Shin Jae-Gook, Lee Su-Jun

Abstract excerpt

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, including three novel variants (L22V, R287T, and G410C) and three previously reported variants (R36S, Q259K, and H331P)....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Asian People
Share to Cytochrome P450 Family 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haplotypes

Share to Linkage Disequilibrium

Share to Polymorphism, Single Nucleotide

Share to Republic of Korea

Share to Young Adult

Source

Identifiers

PMID: 32396266
DOI: 10.1111/ahg.12388

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification and functional characterization of CYP4V2 genetic variants exhibiting decreased activity of lauric acid metabolism.PMID 32396266Read ↗

Molecular Functionality of Cytochrome P450 4 (CYP4) Genetic Polymorphisms and Their Clinical ImplicationsSemantic proximity Read ↗

Highly polymorphic human CYP4A11 gene.Semantic proximity Read ↗

Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH.Semantic proximity Read ↗

Computational analysis of missense variant CYP4F2*3 (V433M) in association with human CYP4F2 dysfunction: A functional and structural impactSemantic proximity Read ↗

Identification of novel CYP4F2 genetic variants exhibiting decreased catalytic activity in the conversion of arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE).Semantic proximity Read ↗

Biochemical analysis of recombinant CYP4A11 allelic variant enzymes: W126R, K276T and S353G.Semantic proximity Read ↗

A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype.Semantic proximity Read ↗

Comprehensive functional characterization of rare and known CYP2E1 allelic variants identified in a Japanese population.Semantic proximity Read ↗

CYP4V2 fatty acid omega hydroxylase, a druggable target for the treatment of metabolic associated fatty liver disease (MAFLD).Semantic proximity Read ↗

Identification and functional characterization of novel CYP2J2 variants: G312R variant causes loss of enzyme catalytic activity.Semantic proximity Read ↗

Loss of multiple enzyme activities due to the human genetic variation P284T in NADPH cytochrome P450 oxidoreductaseSemantic proximity Read ↗

In silico screening and analysis of nonsynonymous SNPs in human CYP1A2 to assess possible associations with pathogenicity and cancer susceptibility.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.