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

RARA gene

The RARA gene provides instructions for making a transcription factor that controls the maturation of immature white blood cells.

Normal Function

The RARA gene provides instructions for making a transcription factor called the retinoic acid receptor, alpha (RARα). A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The RARα protein controls the activity (transcription) of genes that are important for the maturation (differentiation) of immature white blood cells beyond a particular stage called the promyelocyte.

The RARα protein binds to specific regions of DNA and attracts other proteins that help block (repress) gene transcription. In response to a specific signal, these repressive proteins are removed and other proteins that induce gene transcription bind to the RARα protein, allowing gene transcription and cell differentiation to proceed.

Health Conditions Related to Genetic Changes

Acute promyelocytic leukemia

A somatic mutation—a change acquired during a person's lifetime and not inherited—involving the RARA gene causes acute promyelocytic leukemia, a cancer of the blood-forming tissue (bone marrow).

  • The Translocation: A rearrangement of genetic material between chromosomes 15 and 17, written as t(15;17), fuses part of the RARA gene on chromosome 17 with part of another gene on chromosome 15 called PML.
  • The Resulting Protein: The fused PML-RARα protein functions differently than the normal proteins. It binds to DNA and represses gene transcription, but it does not respond to the signal to induce transcription, so the genes remain repressed.
  • Impact on Cells: The normal PML protein typically blocks cell growth and division (proliferation) and induces self-destruction (apoptosis). The PML-RARα protein fails to block proliferation or induce apoptosis. Consequently, the differentiation of blood cells is blocked at the promyelocyte stage, leading to an accumulation of excess promyelocytes in the bone marrow and preventing the formation of normal white blood cells.

Frequently Asked Questions

With early diagnosis and combined ATRA/arsenic therapy, the 5‑year survival rate exceeds 90%. Treatment usually starts with induction therapy to induce remission, followed by consolidation and maintenance phases, and regular monitoring of blood counts and the fusion transcript to detect relapse.
Because the RARA mutation in APL is somatic, it is not inherited. Routine genetic screening of relatives is not recommended unless a family history of other chromosomal translocations or leukemia is present; in that case, a hematology referral may be considered.
Patients may notice sudden bruising or bleeding, unexplained fatigue, shortness of breath, fever, or a feeling of fullness in the abdomen. These symptoms can signal a drop in blood cell counts or the presence of abnormal white blood cells, prompting a blood test that may reveal the characteristic t(15;17) translocation.
bone marrow biopsy followed by cytogenetic analysis or fluorescence in situ hybridization (FISH) identifies the t(15;17) translocation. Detecting this fusion confirms acute promyelocytic leukemia and allows clinicians to start targeted therapy with all-trans retinoic acid (ATRA) and arsenic trioxide, which specifically counteract the PML‑RARα protein.
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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