RBPJ

RBPJ (Recombination signal binding protein for immunoglobulin kappa J region) is a protein that in humans is encoded by the RBPJ gene. This protein is recognized as a crucial transcription factor involved in the Notch signaling pathway, a system that plays a significant role in cell differentiation, proliferation, and apoptosis.

Function

The RBPJ gene encodes a protein that is expressed in many tissues and can bind to a cis-regulatory element in the promoters of several Notch target genes. This protein is a transcriptional regulator that acts as a default repressor when the Notch pathway is inactive and an activator when Notch signaling is active.

Clinical Significance

Mutations in the RBPJ gene have been associated with various diseases. For instance, it has been linked to Alagille syndrome, a genetic disorder affecting the liver and heart. Additionally, aberrant RBPJ signaling is implicated in several types of cancer, including leukemia, lung cancer, and breast cancer.

Research

Research into the RBPJ gene and its protein product is ongoing, with scientists seeking to understand its precise role in the Notch signaling pathway and its potential as a therapeutic target in diseases such as cancer.

See Also

• Notch signaling pathway
• Transcription factor
• Alagille syndrome

References

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