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TPM2
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TPM2On this page:
Reviewed April 2012
What is the official name of the TPM2 gene?The official name of this gene is “tropomyosin 2 (beta).” TPM2 is the gene's official symbol. The TPM2 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 TPM2 gene?The TPM2 gene provides instructions for making a protein called beta (β)-tropomyosin, which is part of the tropomyosin protein family. Tropomyosin proteins regulate the tensing of muscle fibers (muscle contraction) by controlling the binding of two muscle proteins, myosin and actin. In non-muscle cells, tropomyosin proteins play a role in controlling cell shape. β-tropomyosin is found primarily in skeletal muscles, which are the muscles used for movement. This protein helps regulate muscle contraction by interacting with other muscle proteins, particularly myosin and actin. These interactions are essential for stabilizing and maintaining structures called sarcomeres within muscle cells. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. How are changes in the TPM2 gene related to health conditions?
Genetics Home Reference provides information about nemaline myopathy, which is also associated with changes in the TPM2 gene. Where is the TPM2 gene located?Cytogenetic Location: 9p13 Molecular Location on chromosome 9: base pairs 35,681,989 to 35,690,052 The TPM2 gene is located on the short (p) arm of chromosome 9 at position 13. More precisely, the TPM2 gene is located from base pair 35,681,989 to base pair 35,690,052 on chromosome 9. See How do geneticists indicate the location of a gene? in the Handbook. Where can I find additional information about TPM2?You and your healthcare professional may find the following resources about TPM2 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 TPM2 gene or gene products?
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 TPM2?acids ; actin ; amino acid ; arthrogryposis ; cell ; congenital ; contraction ; contracture ; distal ; gene ; glycine ; joint ; mutation ; myosin ; protein ; protein sequence ; sarcomere ; sign ; skeletal muscle ; symptom You may find definitions for these and many other terms in the Genetics Home Reference Glossary. See also Understanding Medical Terminology.
References (12 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. |