What is CTNNB1 syndrome?
CTNNB1 Syndrome is a severe neurodevelopmental disorder caused by disruption of chromosome 3p22. 1 of the CTNNB1 gene (Verhoeven et al. 2020). It is a recently discovered condition associated with developmental delay, intellectual disability and speech delay.
What does CTNNB1 stand for?
CTNNB1 (Catenin Beta 1) is a Protein Coding gene. Diseases associated with CTNNB1 include Pilomatrixoma and Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects. Among its related pathways are Activation of cAMP-Dependent PKA and Coregulation of Androgen receptor activity.
What type of gene is beta catenin?
Catenin beta-1, also known as β-catenin, is a protein that in humans is encoded by the CTNNB1 gene. β-catenin is a dual function protein, involved in regulation and coordination of cell–cell adhesion and gene transcription. In humans, the CTNNB1 protein is encoded by the CTNNB1 gene.
What leads to the accumulation of B catenin?
Upon Wnt activation or genetic mutations of Wnt components, β-catenin accumulates in the cytoplasm and then translocates into the nucleus.
What causes CTNNB1?
CTNNB1 syndrome occurs when one of the two copies of the CTNNB1 gene has lost its normal function. This can be caused by a spelling mistake in the gene or a loss of one copy of the gene. Genes are instructions, which have important roles in our growth and development.
What is the function of beta catenin?
In the canonical Wnt cascade, β-catenin is the key effector responsible for transduction of the signal to the nucleus and it triggers transcription of Wnt-specific genes responsible for the control of cell fate decisions in many cells and tissues.
What does the CTNNB1 gene do?
Normal Function The CTNNB1 gene provides instructions for making a protein called beta-catenin. This protein is present in many types of cells and tissues, where it is primarily found at junctions that connect neighboring cells (adherens junctions).
What is the function of B catenin?
What happens when there is too much beta-catenin?
We report here that overexpression of beta-catenin results in accumulation of p53, apparently through interference with its proteolytic degradation. This effect involves both Mdm2-dependent and -independent p53 degradation pathways, and is accompanied by augmented transcriptional activity of p53 in the affected cells.
What is Wnt protein?
Wnt Family Wnt proteins are secreted, lipid-modified glycoproteins that allow for communication between cells. They regulate cell growth, function, differentiation, and cell death. Wnt proteins play a central role in bone development, modeling, and remodeling.