TLN1

TLN1 is a gene that encodes for the protein talin-1 in humans. Talin-1 is a cytoskeletal protein that is essential for integrin activation and cell adhesion. Mutations in the TLN1 gene can lead to various diseases, including cardiomyopathy and cancer.

Structure

The TLN1 gene is located on the long arm of chromosome 9 (9q33.3). It spans approximately 106 kilobases and consists of 63 exons. The encoded protein, talin-1, is composed of 2541 amino acids and has a molecular weight of approximately 270 kDa.

Talin-1 is a large cytoskeletal protein that consists of a head and a rod domain. The head domain binds to integrins and is involved in their activation, while the rod domain interacts with actin and other cytoskeletal proteins.

Function

Talin-1 plays a crucial role in cell adhesion by linking integrins to the actin cytoskeleton. It is involved in the formation of focal adhesions, which are multi-protein complexes that connect the extracellular matrix to the cytoskeleton. These structures are essential for cell migration, proliferation, and survival.

In addition to its role in cell adhesion, talin-1 is also involved in signal transduction pathways. It can activate integrins, which in turn can activate various signaling pathways that regulate cell behavior.

Clinical significance

Mutations in the TLN1 gene can lead to various diseases. For example, some mutations are associated with a form of inherited dilated cardiomyopathy, a condition characterized by the enlargement and weakening of the heart's main pumping chamber. Other mutations have been linked to certain types of cancer, including breast cancer and colorectal cancer.

See also

• Talin (protein)
• Integrin
• Focal adhesion

References

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