Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
MYH11

MYH11

Reviewed November 2013

What is the official name of the MYH11 gene?

The official name of this gene is “myosin, heavy chain 11, smooth muscle.”

MYH11 is the gene's official symbol. The MYH11 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the MYH11 gene?

The MYH11 gene provides instructions for making a protein called smooth muscle myosin heavy chain 11. It belongs to a group of proteins called myosins, which are involved in cell movement and the transport of materials within and between cells. Thick filaments made of myosin, along with thin filaments of another protein called actin, are the primary components of muscle fibers and are important for muscle tensing (contraction). Smooth muscle myosin heavy chain 11 forms part of a myosin protein complex found in smooth muscles. Smooth muscles are the muscles that line the internal organs of the body, including the blood vessels, stomach, and intestines; as part of their normal function in the body, these muscles contract and relax involuntarily.

Each myosin protein complex consists of two pairs of light chains, which regulate the complex and are produced from several other genes, and two heavy chains such as that produced from the MYH11 gene. The heavy chains each have two parts: a head region and a tail region. The head region interacts with actin and includes a segment that attaches (binds) to ATP. ATP is a molecule that supplies energy for the cells' activities, including muscle contraction. The long tail region of the myosin heavy chain interacts with other proteins, including the tail regions of other myosins, enabling them to form thick filaments.

Does the MYH11 gene share characteristics with other genes?

The MYH11 gene belongs to a family of genes called myosins (myosins).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the MYH11 gene related to health conditions?

core binding factor acute myeloid leukemia - increased risk from variations of the MYH11 gene

Rearrangements of genetic material involving the MYH11 gene are involved in a form of blood cancer known as acute myeloid leukemia (AML). The most common of these rearrangements is an inversion of a region of chromosome 16 (written as inv(16)). An inversion involves breakage of the chromosome in two places; the resulting piece of DNA is reversed and reinserted into the chromosome. Less commonly, a rearrangement known as a translocation occurs between the two copies of chromosome 16 (written as t(16;16)). In this translocation, pieces of DNA from each copy of the chromosome break off and are interchanged. Both types of genetic rearrangement result in the fusion of two genes found on chromosome 16, CBFB and MYH11. These rearrangements are associated with 5 to 8 percent of AML cases in adults. AML associated with either inv(16) or t(16;16) is classified as core binding factor AML (CBF-AML).

The protein produced from the normal CBFB gene interacts with another protein called RUNX1 to form a complex called core binding factor (CBF). This complex attaches to specific areas of DNA and turns on genes that are involved in the development of blood cells. The protein produced from the fusion gene, CBFβ-MYH11, can still bind to RUNX1; however, the function of CBF is impaired. The presence of CBFβ-MYH11 may block binding of CBF to DNA, impairing its ability to control gene activity. Alternatively, the MYH11 portion of the fusion protein may interact with other proteins that prevent the complex from controlling gene activity. This change in gene activity blocks the maturation (differentiation) of blood cells and leads to the production of abnormal, immature white blood cells called myeloid blasts. While inv(16) and t(16;16) are important for leukemia development, one or more additional genetic changes are typically needed for the myeloid blasts to develop into cancerous leukemia cells.

Genetics Home Reference provides information about familial thoracic aortic aneurysm and dissection, which is also associated with changes in the MYH11 gene.

Where is the MYH11 gene located?

Cytogenetic Location: 16p13.11

Molecular Location on chromosome 16: base pairs 15,703,134 to 15,857,029

The MYH11 gene is located on the short (p) arm of chromosome 16 at position 13.11.

The MYH11 gene is located on the short (p) arm of chromosome 16 at position 13.11.

More precisely, the MYH11 gene is located from base pair 15,703,134 to base pair 15,857,029 on chromosome 16.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about MYH11?

You and your healthcare professional may find the following resources about MYH11 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MYH11 gene or gene products?

  • AAT4
  • FAA4
  • MYH11_HUMAN
  • myosin-11
  • myosin-11 isoform SM1A
  • myosin-11 isoform SM1B
  • myosin-11 isoform SM2A
  • myosin-11 isoform SM2B
  • myosin heavy chain 11
  • myosin heavy chain, smooth muscle isoform
  • myosin, heavy polypeptide 11, smooth muscle
  • SMHC
  • SMMHC

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding MYH11?

actin ; acute ; acute myeloid leukemia ; AML ; aneurysm ; ATP ; cancer ; cell ; chromosome ; contraction ; differentiation ; DNA ; familial ; fusion gene ; gene ; inversion ; leukemia ; molecule ; myeloid ; myosin ; myosin heavy chain ; protein ; rearrangement ; stomach ; translocation ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (6 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: November 2013
Published: August 25, 2014