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

FANCC gene

The FANCC gene is a component of the Fanconi anemia pathway, which is responsible for repairing DNA interstrand cross-links to prevent cell death and cancer.

Normal Function

The FANCC gene provides instructions for making a protein that is involved in a process known as the Fanconi anemia (FA) pathway. The FA pathway turns on (activates) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway prevents a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs are abnormal connections between two DNA building blocks (nucleotides) on opposite strands of DNA. These cross-links stop the process of DNA replication and can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs (sometimes known as DNA cross-linking agents).

The FANCC protein is one of several proteins that form a group known as the FA core complex. The FA core complex is composed of eight FA proteins (including FANCC) and two proteins called Fanconi anemia-associated proteins (FAAPs). This complex activates two proteins, called FANCD2 and FANCI, by attaching a single molecule called ubiquitin to each of them (a process called monoubiquitination). The activation of FANCD2 and FANCI attracts DNA repair proteins to the damaged area of DNA so the cross-link can be removed and DNA replication can continue.

Health Conditions Related to Genetic Changes

Fanconi anemia

Many variants (also called mutations) in the FANCC gene have been found to cause Fanconi anemia, a disorder characterized by a decrease in bone marrow function, an increased cancer risk, and physical differences. Variants in the FANCC gene are responsible for about 15 percent of all cases of Fanconi anemia.

Most of the variants in the FANCC gene that cause Fanconi anemia lead to the production of a protein that does not function well or at all. This impacts the function of the FA core complex and disrupts the entire FA pathway. DNA damage is not repaired efficiently, and ICLs build up over time. The ICLs impair DNA replication, which leads to abnormal cell death due to an inability to make new DNA molecules or uncontrolled cell growth due to a lack of DNA repair.

Cells that divide quickly, such as bone marrow cells and cells of the developing fetus, are particularly sensitive to problems with DNA replication. The death of these cells results in the decrease in blood cells and the physical differences that are seen in people with Fanconi anemia. When the buildup of errors in DNA leads to uncontrolled cell growth, affected individuals can develop certain cancers.

Other Names for This Gene

  • FACC
  • FANCC_HUMAN
  • Fanconi anemia, complementation group C

Frequently Asked Questions

Common early signs include unexplained bruising or bleeding, slow growth, and a pale or yellowish skin tone. Parents may notice that a child has frequent infections or that the child’s blood counts are lower than normal. If these symptoms appear, a blood test and a physical exam can help identify Fanconi anemia early.
The main treatment is an allogeneic stem‑cell transplant from a matched donor, which can restore healthy blood cell production. Supportive care such as growth factors, transfusions, and infection prophylaxis is also used. In some cases, gene‑therapy trials are available, but they are still experimental.
Individuals with FANCC mutations have an increased risk of acute myeloid leukemia, squamous cell carcinoma of the head and neck, and other solid tumors. Regular monitoring includes annual CBCs, physical exams, and age‑appropriate cancer screenings (e.g., skin checks, oral exams). Discuss with a hematologist or oncologist about personalized surveillance plans.
definitive diagnosis usually starts with a complete blood count (CBC) to look for low blood cell levels. If Fanconi anemia is suspected, a chromosomal breakage test using agents like diepoxybutane (DEB) or mitomycin C is performed. If abnormal breakage is seen, DNA sequencing of the FANCC gene is done to identify specific mutations.
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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