IGHM

IGHM is a gene that encodes the mu heavy chain of the immunoglobulin molecule, which is a critical component of the immune system. Mutations in this gene can lead to a type of immunodeficiency known as agammaglobulinemia.

Function

The IGHM gene provides instructions for making a protein called the mu heavy chain. This protein is a component of immunoglobulin M (IgM), which is the first antibody produced in response to an infection. The mu heavy chain is essential for the structure and function of IgM molecules.

Clinical significance

Mutations in the IGHM gene can cause a type of immunodeficiency known as agammaglobulinemia. This condition is characterized by a lack of mature B cells, the white blood cells that produce antibodies. As a result, individuals with agammaglobulinemia have a severely weakened immune system and are susceptible to recurrent infections.

Genetics

The IGHM gene is located on the long (q) arm of chromosome 14 at position 32.33. It spans over 1,000 base pairs of DNA and contains several exons, which are the segments of a gene that are used to produce the final protein product.

See also

• Immunoglobulin heavy chain
• Immunoglobulin M
• Agammaglobulinemia
• Immunodeficiency

References

IGHM Resources
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