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PML gene

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

PML gene

The PML gene acts as a tumor suppressor, preventing uncontrolled cell growth by organizing structures within the cell nucleus.

Normal Function

The PML gene provides instructions for a protein that prevents cells from growing or dividing too rapidly. This protein is found in structures within the cell nucleus called PML nuclear bodies (PML-NBs). Within these bodies, the PML protein interacts with other proteins to block cell proliferation and induce apoptosis (programmed cell death). The structure of the PML-NBs is considered essential for these tumor-suppressing activities.

Health Conditions Related to Genetic Changes

Acute promyelocytic leukemia

Acute promyelocytic leukemia is a cancer of the bone marrow characterized by the accumulation of immature white blood cells called promyelocytes. It is caused by a somatic mutation—a non-inherited genetic change—involving a translocation between chromosomes 15 and 17, written as t(15;17).

This translocation fuses the PML gene with the RARA gene, creating a PML-RARα fusion protein. This abnormal protein results in several pathological effects:

  • It fails to localize to the PML-NBs, preventing the structures from forming properly.
  • It loses the ability to block cell proliferation or induce apoptosis.
  • It disrupts the function of the normal RARα protein, which is required for white blood cell maturation.

By blocking the differentiation of white blood cells and allowing abnormal proliferation, the PML-RARα protein leads to the accumulation of immature cells characteristic of this leukemia.

Genomic Location

The PML gene is found on chromosome 15.

Frequently Asked Questions

No, the PML gene mutation in acute promyelocytic leukemia (APL) is a somatic mutation, meaning it occurs randomly in the body's cells after birth and is not inherited from parents. It involves a specific chromosomal translocation, t(15;17), where parts of chromosomes 15 and 17 swap places. This creates a fusion gene that produces an abnormal protein, but this genetic change is confined to the blood cells and does not affect the reproductive cells, so it cannot be passed on to children.
The PML-RARα fusion protein disrupts normal cell function in three key ways. First, it prevents the PML protein from forming PML nuclear bodies, which are essential for stopping cell division. Second, it loses the ability to trigger apoptosis, or programmed cell death, allowing damaged cells to survive. Third, it interferes with the normal RARα protein, which is required for white blood cells to mature. By blocking the maturation of promyelocytes and allowing them to divide uncontrollably, the fusion protein leads to the accumulation of immature cells in the bone marrow characteristic of APL.
Yes, the PML-RARα fusion protein is a primary target for APL treatment. Medications such as all-trans retinoic acid (ATRA) and arsenic trioxide work by disrupting the function of this fusion protein. ATRA helps the immature white blood cells mature into functional cells, while arsenic trioxide can degrade the PML-RARα protein itself. This targeted approach allows for the differentiation of the cancer cells and induction of their death, leading to high cure rates for APL.
PML nuclear bodies (PML-NBs) are structures within the cell nucleus where the PML protein organizes other proteins to regulate cell growth. They act as a tumor suppressor mechanism by blocking cell proliferation and inducing apoptosis when cells become damaged or abnormal. The integrity of these structures is essential for maintaining normal cell cycle control. When the PML gene is disrupted, such as in APL, these bodies fail to form correctly, removing a critical checkpoint that prevents uncontrolled cell division.
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.