CTNNB1 : catenin beta 1

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Description

CTNNB1, also known as β-catenin, is a crucial protein involved in cell-cell adhesion and signal transduction. It acts as a central component of the Wnt signaling pathway, which plays a vital role in embryonic development, tissue regeneration, and cell fate determination. When Wnt signaling is activated, β-catenin accumulates in the nucleus, where it interacts with transcription factors to regulate gene expression. Dysregulation of CTNNB1 function can lead to various developmental abnormalities and diseases.

Associated Diseases

• Cancer (e.g., colorectal, breast, liver, pancreatic)
• Developmental disorders (e.g., osteogenesis imperfecta, Waardenburg syndrome)
• Neurological disorders (e.g., autism spectrum disorder, Alzheimer‘s disease)

Did you know?

CTNNB1 is named after its ability to bind to cadherins, cell adhesion proteins.