MYD88

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What is the official name of the MYD88 gene?

The official name of this gene is “myeloid differentiation primary response 88.”

MYD88 is the gene's official symbol. The MYD88 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 MYD88 gene?

The MYD88 gene provides instructions for making a protein involved in signaling within cells. The MyD88 protein acts as an adaptor, connecting proteins that receive signals from outside the cell to the proteins that relay signals inside the cell. In particular, MyD88 transfers signals from proteins called Toll-like receptors and IL-1 receptors, which are important for an early immune response to foreign invaders such as bacteria. In response to signals from these receptors, the MyD88 adaptor protein stimulates signaling molecules that turn on a group of interacting proteins known as nuclear factor-kappa-B. Nuclear factor-kappa-B regulates the activity of multiple genes, including genes that control the body's immune responses and inflammatory reactions. It also protects cells from certain signals that would otherwise cause them to self-destruct (undergo apoptosis).

How are changes in the MYD88 gene related to health conditions?

Waldenstrӧm macroglobulinemia - associated with the MYD88 gene: A particular mutation in the MYD88 gene is found in more than 90 percent of people with Waldenstrӧm macroglobulinemia. This rare form of blood cancer is characterized by an excess of abnormal white blood cells called lymphoplasmacytic cells in the bone marrow and overproduction of a protein called IgM. The mutation involved in this condition changes a single protein building block (amino acid) in the MyD88 protein, replacing the amino acid leucine with the amino acid proline at position 265 (written as Leu265Pro or L265P). The mutation is acquired during a person's lifetime and is present only in the abnormal white blood cells. This type of genetic change, called a somatic mutation, is not inherited. Waldenstrӧm macroglobulinemia is thought to result from multiple genetic changes, including the MYD88gene mutation.
The altered MyD88 protein is constantly functioning (overactive). It stimulates the signaling molecules that activate nuclear factor-kappa-B, even without signals from outside the cell. Researchers suggest that abnormally active nuclear factor-kappa-B allows survival of abnormal cells that should undergo apoptosis, which may contribute to the accumulation of lymphoplasmacytic cells in Waldenstrӧm macroglobulinemia.
other cancers - associated with the MYD88 gene: The somatic L265P mutation in the MYD88 gene is also found in some cases of other blood cell cancers, including diffuse large B-cell lymphoma (DLBCL) and marginal zone lymphoma. The mechanism by which the mutation contributes to development of the condition is thought to be the same as in Waldenstrӧm macroglobulinemia (described above). The type of cancer that develops is likely determined by the type of cell that acquires the L265P mutation. This mutation is thought to be one of many genetic changes involved in the development of these cancers.
other disorders - associated with the MYD88 gene: The L265P mutation is also found in about 50 to 80 percent of cases of a blood disorder called IgM monoclonal gammopathy of undetermined significance (IgM-MGUS). Individuals with this condition have slightly elevated levels of IgM in the blood. IgM-MGUS can transform into Waldenstrӧm macroglobulinemia (described above) or other blood cell cancers or disorders; when the MYD88 gene mutation is present in IgM-MGUS, the condition is more likely to progress.
At least four mutations in the MYD88 gene have been found to cause a condition called MyD88 deficiency. Individuals with this condition develop recurrent bacterial infections. Unlike in Waldenstrӧm macroglobulinemia and other blood disorders, the gene mutations that causeMYD88 deficiency are inherited and are found in every cell of the body (known as germline mutations). These mutations impair the function of the MyD88 protein. As a result, the protein cannot relay signals that stimulate an immune response, which leads to multiple infections.

Where is the MYD88 gene located?

Cytogenetic Location: 3p22

Molecular Location on chromosome 3: base pairs 38,138,477 to 38,143,021

The MYD88 gene is located on the short (p) arm of chromosome 3 at position 22.

More precisely, the MYD88 gene is located from base pair 38,138,477 to base pair 38,143,021 on chromosome 3.

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

Where can I find additional information about MYD88?

You and your healthcare professional may find the following resources about MYD88 helpful.

Educational resources - Information pages
Molecular Biology of the Cell (fourth edition, 2002): Multiple Stressful and Proinflammatory Stimuli Act Through an NF-κB-Dependent Signaling Pathway
Genetic Testing Registry - Repository of genetic test information (1 link)

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

PubMed - Recent literature
OMIM - Genetic disorder catalog
Research Resources - Tools for researchers (3 links)

What other names do people use for the MYD88 gene or gene products?

MYD88D
MYD88_HUMAN
myeloid differentiation primary response gene (88)
myeloid differentiation primary response protein MyD88

See How are genetic conditions and genes named? in the Handbook.

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 MYD88?

amino acid ; apoptosis ; bacteria ; bone marrow ; cancer ; cell ; deficiency ; differentiation ; gene ;germline ; immune response ; inherited ; kinase ; leucine ; lymphoma ; MGUS ; monoclonal ;monoclonal gammopathy ; mutation ; myeloid ; proline ; protein ; somatic mutation ; tyrosine ;white blood cells

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

References (9 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