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MYH11 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MYH11 gene

The MYH11 gene encodes a protein essential for smooth muscle contraction, and its genetic rearrangements are a known factor in certain types of leukemia.

Overview

The MYH11 gene provides instructions for making a protein called smooth muscle myosin heavy chain 11. This protein is a component of the myosin protein complex, which is vital for muscle tensing (contraction). Smooth muscles line internal organs such as the blood vessels, stomach, and intestines, and they function involuntarily.

Each myosin complex consists of two pairs of light chains and two heavy chains (produced by the MYH11 gene). The heavy chain has a head region that interacts with actin and binds to ATP for energy, and a tail region that enables the formation of thick filaments within muscle fibers.

Health Conditions Related to Genetic Changes

Core binding factor acute myeloid leukemia

Rearrangements involving the MYH11 gene are associated with 5 to 8 percent of adult cases of acute myeloid leukemia (AML). These rearrangements include:

  • Inversion of chromosome 16 (inv(16)): A piece of the chromosome breaks, reverses, and reinserts.
  • Translocation (t(16;16)): Pieces of DNA are interchanged between the two copies of chromosome 16.

Both events result in the fusion of the CBFB and MYH11 genes. The resulting CBFβ-MYH11 fusion protein impairs the function of the core binding factor (CBF), which is necessary for blood cell development. This impairment blocks the maturation of blood cells, leading to the production of abnormal, immature white blood cells known as myeloid blasts.

Other Related Conditions

The MYH11 gene is also associated with:

  • Familial thoracic aortic aneurysm and dissection
  • Intestinal pseudo-obstruction
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome

Genomic Location

The MYH11 gene is found on chromosome 16.

Frequently Asked Questions

Patients should maintain optimal blood pressure control, avoid smoking, and limit activities that impose high arterial stress. Regular cardiovascular imaging to monitor aneurysm size, and prompt treatment of any aortic dilation or dissection, are essential. For AML patients, adherence to chemotherapy schedules and monitoring for infection or bleeding are critical to reduce morbidity.
Patients with the fusion generally respond well to standard induction chemotherapy (cytarabine plus an anthracycline) and often achieve a higher complete remission rate. Because the fusion is a favorable prognostic marker, many clinicians may forego additional cytogenetic risk‑adjusted therapies such as allogeneic stem‑cell transplant in first remission, but decisions are individualized based on age, comorbidities, and response to initial therapy.
Yes, familial thoracic aortic aneurysm and dissection (FTAAD) linked to MYH11 is autosomal dominant. First‑degree relatives should undergo baseline imaging (echocardiography, CT, or MRI of the aorta) and yearly follow‑up if the aneurysm is present. Genetic counseling and testing for the specific MYH11 variant are recommended before initiating surveillance.
The most common method is reverse‑transcriptase polymerase chain reaction (RT‑PCR) on bone marrow or peripheral blood RNA, which amplifies the unique fusion transcript. Fluorescence in situ hybridization (FISH) using probes that span the CBFB and MYH11 loci can also detect the rearrangement directly on interphase cells. Both tests are routinely performed in hematology labs when AML is suspected and can confirm the presence of inv(16) or t(16;16).
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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