Journal article
Complement Gene Variants Define the Conformational Dynamics of C3 Convertase
European journal of immunology, Vol.56(7), e70242
07/22/2026
DOI: 10.1002/eji.70242
PMID: 42484458
Abstract
Current understanding of the structure, function, and molecular dynamics of the alternative pathway C3-convertase has been shaped by the clinical impact of genetic variants in complement genes. Characterizing the functional impact of different mutations not only provides patient-specific insights into the pathogenic mechanisms underlying a number of complement-mediated diseases but, at a broader level, allows us to dissect the molecular underpinnings of protein-protein interactions that drive complement amplification and its control. In this review, we contextualize over 100 variants in C3, CFB, CFD, CFH, and CFI to illustrate how this collective knowledge informs known mechanisms of complement biology and illuminates gaps that remain to be defined.
Details
- Title: Subtitle
- Complement Gene Variants Define the Conformational Dynamics of C3 Convertase
- Creators
- Héctor Martín Merinero - University of IowaSeth J Welsh - University of IowaZhen Xu - University of IowaRichard J H Smith - University of IowaYuzhou Zhang - University of Iowa
- Resource Type
- Journal article
- Publication Details
- European journal of immunology, Vol.56(7), e70242
- DOI
- 10.1002/eji.70242
- PMID
- 42484458
- NLM abbreviation
- Eur J Immunol
- ISSN
- 1521-4141
- eISSN
- 1521-4141
- Publisher
- Wiley
- Grant note
- R01 DK110023 / NIH HHS
- Language
- English
- Date published
- 07/22/2026
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9985183575002771