CTNNBIP1

CTNNBIP1 is a protein that in humans is encoded by the CTNNBIP1 gene. This protein is also known as catenin beta interacting protein 1. It is involved in the regulation of the Wnt signaling pathway, which plays a crucial role in cellular processes such as cell fate determination, proliferation, and migration.

Function

The CTNNBIP1 protein is an inhibitor of beta-catenin, a key component of the Wnt signaling pathway. It binds to beta-catenin and prevents it from interacting with TCF/LEF transcription factors, thereby inhibiting the transcription of Wnt target genes. This regulation is essential for maintaining the balance of cell proliferation and differentiation in various tissues.

Clinical Significance

Mutations in the CTNNBIP1 gene have been associated with intellectual disability and autism spectrum disorder. Studies have shown that these mutations can lead to an overactivation of the Wnt signaling pathway, resulting in abnormal brain development.

Structure

The CTNNBIP1 protein consists of 685 amino acids and has a molecular weight of approximately 75 kDa. It contains a coiled-coil domain that is responsible for its interaction with beta-catenin.

Expression

CTNNBIP1 is expressed in various tissues, including the brain, heart, and skeletal muscle. Its expression is particularly high during embryonic development, reflecting its important role in cell differentiation and organogenesis.

Research

Research on CTNNBIP1 is ongoing to further understand its role in the Wnt signaling pathway and its implications in various diseases. This includes studies on its potential as a therapeutic target in conditions such as cancer, where the Wnt signaling pathway is often dysregulated.