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

FANCA gene

The FANCA gene provides instructions for a protein essential to the Fanconi anemia pathway, which repairs DNA damage to maintain genomic stability.

Normal Function

The FANCA 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 works to prevent 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 in the body or by treatment with certain cancer therapy drugs (sometimes known as DNA cross-linking agents).

The FANCA 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 FANCA) 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

Hundreds of variants (also called mutations) in the FANCA 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 FANCA gene are responsible for 60 to 70 percent of all cases of Fanconi anemia.

Variants in the FANCA gene lead to a nonfunctional FA core complex, which disrupts the entire FA pathway. As a result, 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 characteristic of 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

  • FACA
  • FANCA_HUMAN
  • Fanconi anemia, complementation group A

Frequently Asked Questions

The primary treatment for bone marrow failure in FANCA-related Fanconi anemia is hematopoietic stem cell transplantation (HSCT), often referred to as a bone marrow transplant. This procedure replaces the faulty bone marrow with healthy stem cells. Other treatments may include androgen therapy to temporarily improve blood counts or growth factors to stimulate blood cell production, but these are typically temporary measures.
Early signs of Fanconi anemia can vary but often include physical differences present at birth, such as absent or malformed thumbs, short stature, abnormal skin pigmentation (café-au-lait spots), or kidney problems. Later, symptoms related to bone marrow failure may appear, including fatigue, frequent infections, easy bruising or bleeding, which are signs of low blood cell counts.
Diagnosis of Fanconi anemia usually begins with a clinical suspicion based on physical findings and blood count abnormalities. The definitive diagnosis is often made through a chromosomal breakage test, which shows increased chromosome damage in cells exposed to certain chemicals. Genetic testing, specifically looking for variants in the FANCA gene, confirms the diagnosis and helps determine the specific type of Fanconi anemia.
Individuals with FANCA-related Fanconi anemia have a significantly increased risk of developing certain cancers, including acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors, particularly head and neck squamous cell carcinoma and gynecological cancers. Management involves regular screening for these cancers, often starting in childhood, and close monitoring by a multidisciplinary team. Early detection is key for better outcomes.
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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