Functional evaluation of rare variants in complement factor I using a minigene assay

Functional evaluation of rare variants in complement factor I using a minigene assay

The regulatory serine protease, complement factor I (FI), in conjunction with one of its cofactors (FH, C4BP, MCP, or CR1), plays an essential role in controlling complement activity through inactivation of C3b and C4b. The functional impact by missense variants in the CFI gene, particularly those w...

Full description

Bibliographic Details
Main Authors: Cobey J. H. Donelson, Nicolo Ghiringhelli Borsa, Amanda O. Taylor, Richard J. H. Smith, Yuzhou Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-08-01
Series:Frontiers in Immunology
Subjects:
complement
alternative pathway
complement factor I
complement-mediated diseases
haploinsufficiency
RNA splicing
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2024.1446081/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2024.1446081/full

Similar Items