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CFHR5 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CFHR5 gene

The CFHR5 gene provides instructions for making the complement factor H-related 5 protein, which plays a role in regulating the body's immune response.

Normal Function

The CFHR5 gene provides instructions for making a protein called complement factor H-related 5. While its precise function is not fully understood, its structure is similar to complement factor H, which is known to regulate the complement system. The complement system is a group of proteins that destroy foreign invaders and remove debris; complement factor H-related 5 is believed to assist in controlling this system to ensure it does not damage healthy cells.

Health Conditions Related to Genetic Changes

C3 glomerulopathy

Mutations in the CFHR5 gene have been found to cause C3 glomerulopathy, a rare kidney disease that can lead to end-stage renal disease (ESRD).

  • A common mutation, identified in people from Cyprus, involves the duplication of exons 2 and 3 of the gene.
  • This duplication alters the protein's structure, preventing it from effectively regulating the complement system.
  • The resulting overactivity of the complement system damages the glomeruli (the kidney's filtering units), preventing the kidneys from filtering waste products normally.

Other Names for This Gene

  • CFHL5
  • complement factor H-related 5
  • complement factor H-related protein 5
  • factor H-related protein 5
  • FHR-5
  • FHR5
  • FHR5_HUMAN
  • FLJ10549
  • MGC133240

Genomic Location

The CFHR5 gene is found on chromosome 1.

Frequently Asked Questions

Key clues include persistent proteinuria, microscopic or gross hematuria, reduced kidney function (elevated creatinine), and a family history of early‑onset kidney disease, especially in individuals of Cypriot ancestry.
The duplication is identified by targeted DNA testing—either multiplex ligation‑dependent probe amplification (MLPA) or quantitative PCR that measures copy number, or by next‑generation sequencing panels that include copy‑number analysis.
Management focuses on controlling complement over‑activation (e.g., with complement inhibitors like eculizumab or newer C3‑targeted drugs), controlling blood pressure with ACE inhibitors or ARBs to reduce proteinuria, and avoiding nephrotoxic agents. In advanced disease, renal replacement therapy or transplantation may be required.
Because the mutation is inherited in an autosomal‑dominant pattern with variable penetrance, first‑degree relatives are advised to undergo genetic testing after counseling. Even if asymptomatic, periodic urine analysis and kidney function tests are recommended to detect early disease.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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