C8G
Chr 9complement C8 gamma chain
Also known as: C8C
The C8G protein is the gamma subunit of complement component 8 (C8), which forms part of the membrane attack complex that creates pores in bacterial cell membranes to eliminate pathogens through the complement cascade. Mutations cause complement component 8 deficiency, which follows autosomal recessive inheritance and results in increased susceptibility to recurrent Neisseria infections, particularly meningococcal and gonococcal disease. The gene shows low constraint to loss-of-function variation, consistent with the recessive inheritance pattern of complement deficiencies.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C8G · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools