NFATC1

NFATC1 or Nuclear Factor of Activated T-cells, Cytoplasmic 1 is a protein that in humans is encoded by the NFATC1 gene. It is a member of the nuclear factors of activated T cells (NFAT) family of transcription factors, which play a crucial role in the immune response.

Function

NFATC1 is a component of the calcineurin-NFAT signaling pathway, which is involved in T-cell activation. The protein is primarily located in the cytoplasm of resting T-cells, but upon activation, it translocates to the nucleus where it activates the transcription of target genes. This process is regulated by the phosphatase activity of calcineurin, which dephosphorylates NFATC1, allowing it to enter the nucleus.

Clinical Significance

Mutations in the NFATC1 gene have been associated with various diseases. For instance, it has been implicated in the development of cardiac hypertrophy, a condition characterized by the enlargement of the heart muscle. Additionally, aberrant NFATC1 activity has been linked to autoimmune diseases, including rheumatoid arthritis and systemic lupus erythematosus.

Research

Research into NFATC1 has focused on its role in T-cell activation and its potential as a therapeutic target in autoimmune diseases and cardiac hypertrophy. Studies have also explored the possibility of using NFATC1 inhibitors to suppress the immune response in organ transplant patients.

See Also

• Nuclear factor of activated T-cells
• Calcineurin
• T-cell
• Cardiac hypertrophy
• Autoimmune diseases

References

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