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

CP gene

The CP gene provides instructions for making ceruloplasmin, a protein essential for transporting iron throughout the body and within the brain.

Normal Function

The CP gene provides instructions for making a protein called ceruloplasmin. Ceruloplasmin helps move iron from the organs and tissues of the body into the blood. This protein prepares iron for incorporation into a molecule called transferrin, which transports the iron to red blood cells.

There are two forms of ceruloplasmin:

  • Serum ceruloplasmin: Made primarily in the liver, this form is involved in transporting iron from most of the body but is unable to enter the brain.
  • GPI-anchored form: This form is important for processing iron in the brain and releasing it from brain tissue. It is made in nervous system cells called glia, which protect and maintain nerve cells (neurons).

Health Conditions Related to Genetic Changes

Aceruloplasminemia

Approximately 40 mutations in the CP gene that cause aceruloplasminemia have been identified. Some of these mutations substitute one protein building block (amino acid) for another, resulting in an unstable protein that quickly breaks down (degrades). Other mutations result in the production of an abnormally short, nonfunctional version of the protein or prevent the protein from being secreted by the cells in which it is made.

Absence of functional ceruloplasmin results in iron transport problems that lead to the iron accumulation, neurological dysfunction, and other health problems seen in aceruloplasminemia.

Other Names for This Gene

  • CERU_HUMAN
  • ceruloplasmin (ferroxidase)
  • CP-2
  • ferroxidase

Genomic Location

The CP gene is found on chromosome 3.

Frequently Asked Questions

Iron chelation therapy (e.g., deferiprone or deferoxamine) is the mainstay to reduce systemic iron. In advanced liver disease, a liver transplant may be considered. Regular monitoring of iron indices, liver function, and neurological status guides therapy adjustments.
Patients should limit dietary iron, especially heme iron from red meat, and avoid vitamin C supplements that enhance iron absorption. A dietitian can design a low‑iron plan that still meets nutritional needs, and iron‑rich foods should be consumed with calcium or phytate‑rich foods to reduce absorption.
Diagnosis is based on low or undetectable serum ceruloplasmin levels, elevated serum ferritin, transferrin saturation above 50 %, and high liver iron concentration on MRI or biopsy. Genetic testing for pathogenic CP gene mutations confirms the diagnosis.
Early signs include movement disorders such as tremor or ataxia, peripheral neuropathy, optic atrophy, and cognitive decline. These may appear in the second or third decade of life, often before significant liver disease develops.
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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