Article
Functional evaluation of rare variants in complement factor I using a minigene assay.
Frontiers in immunology - 1 Jan 2024
Donelson Cobey J H, Ghiringhelli Borsa Nicolo, Taylor Amanda O, Smith Richard J H, Zhang Yuzhou
Abstract excerpt
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 with minor allele frequencies of 0.01% to 0.1%, is infrequently studied. As such, these variants are typically...
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