Complement component 5 deficiency: genes and variants
Complement component 5 deficiency is linked to 1 analyzed protein (C5). 1 DNA variants are known to cause it; 50 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Complement component 5 deficiency
C5: Complement C5
Its cleavage produces the potent inflammatory mediator C5a and C5b, which initiates assembly of the membrane-attack complex. Excessive activation contributes to several complement-mediated disorders, making C5 blockade an established therapeutic strategy.
1 disease-causing and 50 uncertain variants in C5 are linked to Complement component 5 deficiency.
Known disease-causing variants in Complement component 5 deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| C5 K372R | 372 | Disease-causing |
Diseases related to Complement component 5 deficiency
- Atypical hemolytic-uremic syndrome, also linked to C5
Frequently asked questions
Which genes are linked to Complement component 5 deficiency?
In CATVariant, Complement component 5 deficiency is linked to 1 analyzed protein: C5 (Complement C5).
How many genetic variants are linked to Complement component 5 deficiency?
53 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 50 are of uncertain significance or have conflicting reports.
Which uncertain variants in Complement component 5 deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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