How many people have CTNNB1?

There are currently around 200 people in the world known to have been diagnosed with CTNNB1 Syndrome.

What is CTNNB1 mutation?

The CTNNB1 gene mutations that cause desmoid tumors usually occur in a region of the gene called exon 3. They change single protein building blocks (amino acids) in the beta-catenin protein. These mutations lead to an abnormally stable beta-catenin protein that is not broken down when it is no longer needed.

Is beta-catenin a tumor suppressor?

As a tumor suppressor, RUNX3 inactivation occurs in many cancer types, especially in more than 80\% of gastric cancers. RUNX3 forms a ternary complex together with TCF4 and β-catenin, attenuating the DNA-binding activity of β-catenin/TCF4, independent of its own DNA-binding activity [78].

What is the role of beta-catenin?

Beta-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. It is a member of the catenin protein family and homologous to γ-catenin, also known as plakoglobin.

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 does B catenin do?

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.

Is beta catenin a tumor suppressor?

Is beta catenin an oncogene?

Beta-catenin is a proto-oncogene. Mutations of this gene are commonly found in a variety of cancers: in primary hepatocellular carcinoma, colorectal cancer, ovarian carcinoma, breast cancer, lung cancer and glioblastoma.

Are Wnt and wingless the same?

The name Wnt is a portmanteau created from the names Wingless and Int-1. Wnt signaling pathways use either nearby cell-cell communication (paracrine) or same-cell communication (autocrine). Wnt signaling was first identified for its role in carcinogenesis, then for its function in embryonic development.

Why is Wnt called Wnt?

The name Wnt is a portmanteau created from the names Wingless and Int-1. All three pathways are activated by the binding of a Wnt-protein ligand to a Frizzled family receptor, which passes the biological signal to the Dishevelled protein inside the cell.

How many Wnts are there?

To date, 19 different Wnts have been identified in mouse and human, 15 in zebrafish, 5 in C. elegans, and 7 in Drosophila. All of these Wnt proteins share a common signature of 23 highly conserved cysteines (Fig. 2.3). They do not contain any conserved protein domains except an N-terminal signal peptide.