CTNNB1-gen: MedlinePlus Genetics (2023)

normal function

This hereCTNNB1The gene provides the instructions for making a protein called beta-catenin. This protein is found in many types of cells and tissues, primarily at the junctions (adherent junctions) that connect adjacent cells. Beta-catenin plays an important role in cell attachment (cell adhesion) and in communication between cells.

β-catenin is also involved in cell signaling as an important part of the Wnt signaling pathway. Certain proteins in this pathway bind (bind) to catenin, triggering a multi-step process that allows the protein to enter the nucleus. Once in the nucleus, beta-catenin interacts with other proteins to control the activity (expression) of specific genes. The Wnt signaling pathway promotes cell growth and division (proliferation) and helps determine the specific functions a cell will perform (differentiation). Wnt signaling is known to be involved in many aspects of prenatal development. In adult tissues, this pathway plays a role in the maintenance and renewal of stem cells, cells that help repair tissue damage and can give rise to other cell types.

Among its many activities, beta-catenin appears to play an important role in the normal functioning of hair follicles, specialized structures in the skin where hair grows. This protein is active in cells that are part of the hair follicle called the stroma. These cells divide and mature to form the various components of the hair follicle and hair shaft. When stromal cells divide, the hair shaft is pushed up and extends beyond the skin.

health conditions associated with genetic changes


mutations inCTNNB1A gene that causes an aggressive but not cancerous (benign) growth called a desmoid.CTNNB1Genetic mutations are found in about 85% of non-hereditary (sporadic) desmoid tumors. These rare tumors arise from connective tissue, which provides strength and flexibility to structures like bones, ligaments, and muscles. The tumors are often found in the abdomen, shoulder, upper arm, or thigh. thisCTNNB1The gene mutations that cause desmoid tumors are somatic, meaning they are acquired during a person's lifetime and are only present in tumor cells. Somatic mutations are not inherited.

This hereCTNNB1The gene mutations that cause desmoid tumors usually occur in a region of the gene called exon 3. They change the building blocks of individual proteins (amino acids) in beta-catenin. These mutations result in abnormally stable beta-catenin that is not degraded when no longer needed. As a result, the protein accumulates inside the cell. Excess beta-catenin promotes the uncontrolled proliferation of cells that form desmoid tumors.

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(Video) New Hope for Children with CTNNB1 Syndrome


somatic mutationCTNNB1The gene is present in almost all pilomatriomas, a benign skin tumor associated with hair follicles.

This hereCTNNB1Genetic mutations found in capillary hemangiomas have been described as gain-of-function mutations. They make the beta-catenin protein active all the time (constitutively active), leading to abnormal activation of certain genes. These genes increase the proliferation and differentiation of cells associated with the stroma of the hair follicle. The cells divide too quickly and uncontrollably, leading to the formation of pilomatriomas.

Almost all capillary angiomas are benign, but very few are cancerous (malignant). A malignant version of this tumor is known as pilomatric carcinoma. As pilomatrioma, pilomatrioma iCTNNB1Gene. It is not clear why some of these tumors are cancerous and most of the others are not.

(Video) CTNNB1 Syndrome with Effie Parks of Once Upon a Gene

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Tumor de Wilms

mutations inCTNNB1The gene has been found in Wilm's tumor, a rare type of kidney cancer that occurs almost exclusively in children. These mutations are somatic and occur only in tumor-producing renal cells.CTNNB1Genetic mutations in Wilms tumors cause the protein to become overactive. This active beta-catenin promotes Wnt signaling for longer than normal, leading to uncontrolled renal cell proliferation and tumor development.

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aldosterone adenoma

MedlinePlus Genetics provides information on aldosterone-producing adenomas

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(Video) Gene Therapy Explanation

cervical cancer

MedlinePlus Genetics provides information on ovarian cancer

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other types of cancer

somatic mutationCTNNB1The gene has been found in several other types of cancer. These include cancers of the colon, liver, thyroid, ovary, endometrium, and skin, as well as a type of brain tumor called medulloblastoma, among others. Studies have shown that gain-of-function mutationsCTNNB1The gene prevents the breakdown of beta-catenin when it is no longer needed, allowing the protein to accumulate inside the cell. Excess beta-catenin enters the nucleus and promotes uncontrolled cell proliferation, leading to the development of cancerous tumors.

due to mutation iCTNNB1Genes that can cause normal cells to become cancerous,CTNNB1It belongs to a class of genes known as oncogenes. Sometimes mutations in other oncogenes are associated withCTNNB1Genetic mutations that cause cancer. It is not clear why the mutation occurs.CTNNB1Genes are associated with several different types of cancerous and non-cancerous tumors.

Other names for this gene

  • armadillo
  • chain
  • Catenin (cadherin-associated protein), beta 1
  • Catenin (cadherin-associated protein), beta 1, 88 kDa
  • Beta-1 catenin
  • CTNB1_human
(Video) Wnt/β-Catenin Signaling Pathway

Additional information and resources

Tests included in the Registry of Genetic Tests

Scientific articles in PubMed

Database of genes and variations.


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(Video) CTNNB1 Mutation and the Wnt Pathway in Endometrial Cancer


How rare is CTNNB1? ›

Rare disorders like CTNNB1 syndrome often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population. As molecular genetic testing becomes more widely used, it is estimated that approximately 3 individuals in every 100,000 births may be affected by CTNNB1 syndrome.

Is CTNNB1 inherited? ›

Rarely, individuals diagnosed with CTNNB1-NDD have inherited a CTNNB1 pathogenic variant from a parent. Once the CTNNB1 pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

What is the CTNNB1 gene? ›

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 CTNNB1 gene in cerebral palsy? ›

CTNNB1 is the most common cause of misdiagnosed cerebral palsy. CTNNB1 is an autosomal dominant disorder, meaning the mutation of a single gene is enough to cause the disease. CTNNB1 Syndrome is in most cases not inherited but happens spontaneously or »de novo«.

Is CTNNB1 progressive? ›

»CTNNB1 is a severe intellectual disability-progressive spastic diplegia syndrome.

What are the symptoms of CTNNB1 syndrome? ›

What are the Symptoms of CTNNB1 Syndrome?
  • Gross and Fine Motor Delays.
  • Coordination and Balance Problem.
  • Attention and Concentration Problems.
  • Learning Difficulty and Intellectual Disability.
  • Speech/Communication Delays: Most children have expressive language delays.

Where is the CTNNB1 gene located? ›

CTNNB1 is the name of a gene that is located on the short arm (p) of chromosome 3 at position 22.1 (Cytogenetic Location: 3p22.

Is fibromatosis a CTNNB1 mutation? ›

Desmoid-type fibromatosis (DF) is a locally aggressive neoplasm characterized by mutations in the CTNNB1 gene, which encodes the β-catenin protein. We reviewed 85 cases of DF and performed Sanger sequencing for detecting mutations in CTNNB1 and immunostaining for detecting β-catenin localization.

What is CTNNB1 in melanoma? ›

Melanoma-intrinsic activated β-catenin pathway, the product of the catenin beta 1 (CTNNB1) gene, has been associated with low/absent tumor-infiltrating lymphocytes, accelerated tumor growth, metastases development, and resistance to anti-PD-L1/anti-CTLA-4 agents in mouse melanoma models.

What is a synonym for CTNNB1? ›

Catenin beta-1, also known as beta-catenin (β-catenin), is a protein that in humans is encoded by the CTNNB1 gene.

When was CTNNB1 discovered? ›

De novo loss-of-function mutations in the CTNNB1 gene were first discovered in 2012 after diagnostic exome sequencing of individuals with severe intellectual disability [4], and since then the term CTNNB1 Syndrome has become the generic term for all disorders associated with CTNNB1 haploinsufficiency.

What is exon 3 of CTNNB1? ›

Exon 3 of CTNNB1 is a key exon encoding serine-threonine phosphorylation sites for GSK-3β that activates degradation of β-catenin [79]. The CTNNB1 mutations are frequently missense mutations [27].

Who carries the gene for cerebral palsy? ›

In particular, the analysis identified two genes — FBXO31 and RHOB — that when mutated are each alone sufficient to cause cerebral palsy. Many of the additional genes carrying mutations were only present in the child with cerebral palsy — meaning they arose randomly — while others were inherited from both parents.

What genetic disorders present like cerebral palsy? ›

Other progressive disorders that are occasionally misdiagnosed as cerebral palsy are metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, and Rett syndrome. These disorders differ from cerebral palsy in that they cause breakdowns in cognitive and behavior skills, not just motor skills.

Is there a gene that causes cerebral palsy? ›

In a DNA sequencing study of 50 patients with cerebral palsy, about 1 in 4 had an identifiable genetic cause. Cerebral palsy (CP) has widely been viewed as the result of perinatal oxygen deprivation or other birth-related factors like prematurity.

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.

Is spastic diplegia a disability? ›

Sometimes called spastic diplegia, diplegic cerebral palsy is a version of the disability that is characterized by frequent spasms and muscle tensing. A person with this disorder tends to feel the tension most in their legs.

Is spastic diplegia rare? ›

Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability .

What is Noonan syndrome? ›

Noonan syndrome is a genetic disorder characterized by short stature, distinctive facial features, heart defects, bleeding problems and skeletal abnormalities. Most individuals with Noonan syndrome have normal intelligence, but some may have special educational needs or intellectual disability.

What is Dyrkla syndrome? ›

DYRK1A syndrome is characterized by intellectual disability including impaired speech development, autism spectrum disorder with anxious and/or stereotypic behavior problems, and microcephaly.

What is Wardenburg syndrome? ›

Waardenburg syndrome is a group of conditions passed down through families. The syndrome involves deafness and pale skin, hair, and eye color. Broad nasal bridge, or widening of the base of the nose, is a relative term.

Is CTNNB1 a proto oncogene? ›

CTNNB1 is the most frequently mutated proto-oncogene in liver cancer (4).

Is CTNNB1 a transcription factor? ›

In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes (By similarity).

What is the difference between a sarcoma and a desmoid tumor? ›

What is the difference between desmoid tumors and soft tissue sarcoma? Desmoid tumors are related to a type of cancer called soft tissue sarcoma. Soft tissue sarcomas can metastasize (spread to other parts of the body), while desmoid tumors do not spread.

What is a desmoid tumor CTNNB1? ›

Lay abstract. Aim: Desmoid tumor (DT) is a rare, locally aggressive benign neoplasm with a high recurrence rate. The majority of cases have mutations in the CTNNB1 gene, but whether these mutations are associated with the risk of recurrence is still unclear.

What type of mutation on DNA causes NF1? ›

Inheritance. Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent .

Is BRAF mutation good or bad melanoma? ›

A BRAF mutation is a change in a BRAF gene. That change in the gene can lead to an alteration in a protein that regulates cell growth that could allow the melanoma to grow more aggressively. Approximately half of melanomas carry this mutation and are referred to as mutated, or BRAF positive.

What is the best treatment for BRAF negative melanoma? ›

Immunotherapy helps the body's natural defence system (immune system) to find and destroy melanoma cells. You have immunotherapy if your melanoma is BRAF negative. If your melanoma is BRAF positive, you may have targeted cancer drugs or immunotherapy.

What is the most common BRAF mutation in melanoma? ›

Approximately one-half of advanced (unresectable or metastatic) melanomas harbor a mutation in the BRAF gene, with V600E being the most common mutation.

What is another name for syndrome? ›

Words related to syndrome

ailment, disorder, malady, problem, sickness, affection, complaint, complex, diagnostics, infirmity, prognostics, sign, symptoms.

What is the other name for neural? ›

The word neural has a Greek root, neuron, or "nerve." This scientific term is sometimes used interchangeably with neurological for anything connected with the entire nervous system.

Is any abnormal condition of the body or mind that causes discomfort dysfunction or distress to the person affected or those in contact ›

In humans, disease is often used more broadly to refer to any condition that causes pain, dysfunction, distress, social problems, or death to the person affected, or similar problems for those in contact with the person.

Is beta-catenin druggable? ›

However, the discovery of small molecules that directly bind β-catenin and dissociate the β-catenin/TCF4 complex suggests that it may indeed be druggable.

What is beta-catenin in humans? ›

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 gene? ›

Besides, β-catenin promotes the progression of tumors via suppressing the T-cell responses [12]. The activity of β-catenin is controlled by a large number of binding partners that affect its stability, cellular localization and transcriptional activity.

What genes are activated by beta-catenin? ›

β-catenin translocates to the nucleus and interferes with the TCF- LEF co-transcription factors. This leads to the stimulation of several β-catenin target genes (CYCLIN D1, c-MYC, PDK, MTC-1, MMP7, fibronectin, COX-2, AXIN-2) (7, 8, 21, 22) (Figure 2).

What does exon 11 do? ›

Exon 11, which encodes the juxtamembrane domain of KIT, is the most frequently mutated region, affecting 70–75% of GIST[5, 6]. The conformational changes in KIT due to exon 11 mutations disrupt the autoinhibitory domain of the receptor and permit continuous kinase activation.

What is beta-catenin mutation? ›

Mutations in the β-catenin gene (CTNNB1) have been implicated in the pathogenesis of some cancers. The recent development of cancer genome databases has facilitated comprehensive and focused analyses on the mutation status of cancer-related genes.

How many people have PACS1 syndrome? ›

Frequency. The prevalence of PACS1 syndrome is unknown; more than 30 affected individuals have been described in the scientific literature.

What is the rare disease haploinsufficiency? ›

PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.

What is the treatment for BRAF melanoma? ›

Doctors can treat BRAF-positive melanomas with targeted therapy, which is a type of chemotherapy. Targeted therapy uses drugs to attack cancer cells that contain specific mutations. The drugs healthcare professionals use to target BRAF mutations are called BRAF inhibitors.

What is the prognosis for PACS1? ›

PACS1 Syndrome is not known to shorten a person's lifespan. People with PACS1 Syndrome will likely need extra help in school, such as special education classes. They will also need to be monitored throughout their lives to make sure they do not develop any additional health issues.

What is the physical appearance of PACS1 syndrome? ›

Common facial features include hypertelorism, downslanting palpebral fissures, bulbous nasal tip, low-set and simple ears, smooth philtrum, wide mouth with downturned corners, thin upper vermilion, and wide-spaced teeth. To date approximately 35 individuals with PACS1-NDD have been reported.

Is familial dysautonomia rare? ›

Familial dysautonomia occurs primarily in people of Ashkenazi (central or eastern European) Jewish descent. It affects about 1 in 3,700 individuals in Ashkenazi Jewish populations. Familial dysautonomia is extremely rare in the general population.

What are the 4 rare genetic disorders listed? ›

Rare genetic disorders include:
  • AA amyloidosis.
  • Adrenoleukodystrophy (ALD).
  • Ehlers-Danlos syndrome.
  • Mitochondrial diseases.
  • Usher syndrome.
Aug 20, 2021

What are the rarest genetic disorders in the world? ›

The Rarest of the Rare
  • Hutchinson-Gilford Progeria Syndrome (HGPS) Frequency: Occurs in 1 in 4 million newborns worldwide. ...
  • Alkaptonuria. Frequency: Occurs in 1 in 250,000 -1,000,000 live births. ...
  • Ribose-5-phosphate isomerase deficiency. ...
  • Ogden syndrome. ...
  • KAT6A syndrome.
Feb 23, 2021

What disease is caused by silent mutation? ›

Likewise, silent mutations that cause such skipping of exon excision have been identified in genes thought to play roles in genetic disorders such as Laron dwarfism, Crouzon syndrome, β+-thalassemia, and phenylalanine hydroxylase deficiency (phenylketonuria (PKU)).


1. Wnt/β-Catenin Signaling Pathway | Overview, Purpose and APC Mutations
(JJ Medicine)
2. What is Genetic Testing?
3. Variants of the beta catenin gene mutation - Gronchi, MD
(Desmoid Foundation)
(Inherited Cancer Registry (ICARE))
5. Genetic variation, gene flow, and new species
(California Academy of Sciences)
6. Wnt/ß-catenin Signaling Pathway
(Henrik's Lab)


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