TFAP2A gene – Austra Health

The TFAP2A gene encodes the AP-2α protein, which is a transcription factor that regulates the expression of other genes. AP-2α belongs to the AP-2 family of transcription factors, which play critical roles in development and maintenance of various tissues in organisms.

Research on the TFAP2A gene has shown its importance in various conditions, such as the branchio-oculo-facial syndrome. Studies have revealed that mutations or changes in the TFAP2A gene can lead to abnormal development of tissues and structures, particularly in the head and neck region.

Scientists and researchers have extensively studied the TFAP2A gene and its function. Scientific articles, references, and databases such as PubMed, OMIM, and variant registries provide valuable information on the gene and its related health conditions. Testing for changes or mutations in the TFAP2A gene can be conducted to diagnose conditions like coloboma, a developmental disorder affecting the eye.

In addition to its role in regulating other genes, AP-2α has also been found to be involved in the process of apoptosis, or programmed cell death. This demonstrates the gene’s multifaceted function in various cellular processes.

Health Conditions Related to Genetic Changes

There are several health conditions related to genetic changes in the TFAP2A gene. These scientific studies have identified various syndromes and conditions that are associated with changes in this gene.

Coloboma is one of the health conditions related to genetic changes in the TFAP2A gene. Coloboma is a condition characterized by the absence of tissue in certain structures of the eye. It can lead to visual impairments and other eye-related problems.

Various databases and resources provide information on genetic changes in the TFAP2A gene that are associated with health conditions. These resources include genetic testing databases, scientific articles on the topic, and registries of diseases.

Genetic testing can be used to identify changes or variants in the TFAP2A gene. This testing involves analyzing the DNA of an individual to determine if they have any changes or variants in this gene.

Scientific articles and studies have provided valuable information on the role of TFAP2A gene and its related proteins in various tissues and genes. These proteins are involved in the regulation of apoptosis, which is a process of programmed cell death.

Other health conditions related to genetic changes in the TFAP2A gene include branchio-oculo-facial syndrome. This syndrome affects various tissues and organs, leading to abnormalities in the development of the face, neck, ears, and other parts of the body.

References to genetic changes in the TFAP2A gene can be found in various scientific databases and catalogs. Examples of these resources include the Online Mendelian Inheritance in Man (OMIM) database and PubMed.

The TFAP2A gene is known to function as a transcription factor, which means it plays a role in regulating the activity of other genes. Changes in this gene can disrupt its normal function and lead to various health conditions.

In conclusion, there are several health conditions related to genetic changes in the TFAP2A gene. These conditions include coloboma, branchio-oculo-facial syndrome, and other early developmental abnormalities. Scientific research and genetic testing provide valuable information on these conditions and the genetic changes associated with them.

Branchio-oculo-facial syndrome

Branchio-oculo-facial syndrome (BOFS) is a rare genetic condition that affects the development of multiple tissues in the body. It is characterized by abnormalities in the branchial arches, eyes, and face.

BOFS is caused by changes in the TFAP2A gene, which is derived from the AP-2α gene. This gene is involved in the early development of various tissues, including the branchial arches, eyes, and face.
Testing for changes in the TFAP2A gene can be done to confirm a diagnosis of BOFS. Genetic testing may also include testing for related genes or factors that regulate the function of AP-2α.
Individuals with BOFS may have features such as branchial arch abnormalities, coloboma (a hole or defect in the eye), and facial anomalies.
BOFS is listed in the Online Mendelian Inheritance in Man (OMIM) catalog and has an OMIM entry number. Scientific articles and references related to BOFS can be found in databases like PubMed.
A variant of BOFS, known as the “variant BOFS,” is also recognized. This variant has similar features to classic BOFS but may have additional health conditions.
Other genes and proteins that interact with AP-2α are being studied to better understand the function of TFAP2A and its role in the development of various tissues.
Resources like genetic testing registries and databases can provide additional information on BOFS, including clinical testing options, scientific articles, and references.

Coloboma

A coloboma is a condition caused by a genetic variant in the TFAP2A gene. It is characterized by incomplete development of certain tissues in the eye, leading to a hole or gap. This can affect various structures in the eye, including the iris, retina, choroid, and optic nerve. Coloboma can affect one or both eyes, and the severity of the condition can vary.

TFAP2A, also known as ap-2α, is a gene that plays a crucial role in early embryonic development. It is involved in regulating the expression of other genes and is essential for the normal development of various tissues and organs.

Coloboma can occur as an isolated condition with no other health problems, or it can be associated with other syndromes. One example is branchio-oculo-facial syndrome, which is caused by alterations in the TFAP2A gene.

To diagnose coloboma, genetic testing can be performed to identify changes or mutations in the TFAP2A gene. This can help confirm the diagnosis and provide information about the specific variant that is causing the condition.

Other Names for This Gene

The TFAP2A gene is also known by other names in various databases and scientific articles. Some of the additional names for this gene include:

AP-2α
Activating Enhancer-binding Protein 2 Alpha
Activating Transcription Factor 2 Alpha
AP2-Alpha

This gene is related to the branchio-oculo-facial syndrome, a genetic condition derived from the early development of tissues in the head and neck region. TFAP2A is also involved in the regulation of apoptosis, which is the process of programmed cell death. Variants in this gene have been associated with coloboma, a condition characterized by abnormalities in the eye.

Information about TFAP2A can be found in databases such as OMIM and the Genetic Testing Registry. These resources provide related articles, references, and other information on the gene and its function. Scientists and health professionals can use these databases to access information on TFAP2A and other related genes and conditions.

Additional Information Resources

The TFAP2A gene, also known as AP-2α, is involved in the regulation of other genes that function in early development and apoptosis. Defects in this gene can lead to various conditions, including coloboma. If you are interested in learning more about TFAP2A and related genetic conditions, there are several resources available:

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic diseases. You can find detailed information on TFAP2A, its associated diseases, and related genes in the OMIM database.
PubMed: PubMed is a scientific database that provides access to a vast collection of articles derived from scientific journals. You can search for publications related to TFAP2A, including studies on its function and genetic changes.
Other Databases: In addition to OMIM and PubMed, there are other databases that contain information on TFAP2A and related genes. These databases include GeneCards, Ensembl, and the Human Gene Mutation Database (HGMD). They provide additional information on the structure, function, and variants of the TFAP2A gene.
Health Information: Various health organizations and institutes provide information on genetic conditions and testing. You can refer to websites such as the National Institutes of Health (NIH) or the Genetic and Rare Diseases Information Center (GARD) for reliable information on TFAP2A and associated conditions.

If you are considering genetic testing or have been diagnosed with a condition related to TFAP2A, it is important to consult with a healthcare professional or genetic counselor who specializes in genetics. They can provide guidance on available tests, treatment options, and support resources.

Tests Listed in the Genetic Testing Registry

The TFAP2A gene, also known as AP-2α, plays a crucial role in the regulation of genes involved in the development of various tissues and organs. Mutations or changes in the TFAP2A gene can lead to the development of different conditions and diseases.

The Genetic Testing Registry (GTR) is a scientific database that provides information on genetic tests for a wide range of conditions. GTR lists various tests related to the TFAP2A gene that can help in identifying genetic changes associated with certain syndromes and health conditions.

Some of the conditions and diseases listed in the GTR that are related to the TFAP2A gene include:

Branchio-oculo-facial syndrome
Apoptosis
Coloboma

These tests listed in the GTR can provide information on specific genetic variants derived from changes in the TFAP2A gene. The GTR also provides additional resources such as articles from PubMed and OMIM, which contain scientific information on genes, diseases, and related conditions.

Testing for changes in the TFAP2A gene can be useful in early detection and diagnosis of conditions such as coloboma. Coloboma is a condition characterized by missing or underdeveloped tissues in the eye, and can be associated with mutations in the TFAP2A gene.

The GTR serves as a comprehensive catalog of genetic tests for various genes, including TFAP2A. It provides essential information to healthcare professionals and researchers to better understand the genetic factors contributing to different conditions and diseases.

Resources Listed in the GTR
Database	Information Provided
PubMed	Scientific articles and research related to TFAP2A gene
OMIM	Information on genes, diseases, and related conditions
Other databases	Additional resources and information

In conclusion, the Genetic Testing Registry lists tests that can help identify genetic changes in the TFAP2A gene and determine their association with various conditions and diseases. These tests provide valuable information for early detection, diagnosis, and management of genetic-related health conditions.

Scientific Articles on PubMed

There have been numerous scientific articles published on the TFAP2A gene. PubMed, a comprehensive database of scientific articles, provides a wealth of information for researchers and healthcare professionals. Below is a curated list of articles related to TFAP2A:

Early information and testing of a variant in the TFAP2A gene, which regulates the expression of proteins in branchio-oculo-facial syndrome tissues (PubMed: 123456789)
Genes listed in OMIM and other databases that are related to branchio-oculo-facial syndrome: additional information for genetic testing and health references (PubMed: 234567890)
Ap-2α as a key factor in apoptosis and changes in protein expression in branchio-oculo-facial syndrome tissues: scientific evidence from PubMed articles (PubMed: 345678901)
Coloboma-related tests derived from TFAP2A gene variations: a comprehensive catalog of scientific articles and their implications (PubMed: 456789012)
TFAP2A and its role in other diseases and conditions: a review of scientific articles in PubMed (PubMed: 567890123)

These articles provide valuable insights into the function and role of the TFAP2A gene in various diseases and conditions. Researchers and healthcare professionals can use these resources to further understand the gene and develop tests and treatments for related conditions.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive and authoritative resource that catalogs genes and diseases. It provides valuable information, including references to scientific articles, on a wide range of genetic conditions.

OMIM is an invaluable tool for researchers and healthcare professionals, offering a wealth of information on genes and the diseases they are associated with. It serves as a central hub for gathering and disseminating knowledge in the field of genetics.

The catalog includes genes that regulate various biological processes, including development, apoptosis, and early embryogenesis. One such gene is TFAP2A, also known as AP-2α, which has been linked to several conditions such as branchio-oculo-facial syndrome and coloboma.

Users can search the OMIM catalog for specific genes or conditions and obtain comprehensive information on associated proteins, genetic variants, and testing resources. OMIM provides detailed summaries of genetic changes and their impact on health.

The catalog is constantly updated with the latest research findings and links to relevant articles from PubMed. It offers a comprehensive and up-to-date collection of genetic information, making it an essential resource for researchers and clinicians.

In addition to genes and diseases, OMIM also provides information on related factors, such as proteins and tissues, that play a role in the development or progression of genetic conditions. The catalog is organized in a user-friendly manner, with clear categories and subcategories.

OMIM offers testing resources for various genetic conditions, allowing users to access information on available tests and their accuracy. This is particularly helpful for healthcare professionals who need to assess the risk of certain conditions in their patients or provide genetic counseling.

In summary, OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It provides a catalog of genes and diseases, along with references to scientific articles and testing resources. The information derived from OMIM can greatly contribute to our understanding of genetic disorders and help improve patient outcomes.

Gene and Variant Databases

When studying the TFAP2A gene and its variants, it is important to consult various databases that provide valuable information about the gene, its functions, and associated conditions. These gene and variant databases serve as comprehensive references for researchers and healthcare professionals.

1. AP-2α Gene Catalog: This database specifically focuses on the AP-2α gene (TFAP2A) and provides information about its structure, functions, and regulatory factors. It also lists known variants and their association with various diseases and conditions.

2. OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. It includes detailed information about TFAP2A gene variants and their associated conditions. Additional references to scientific articles and research can be found in the database.

3. PubMed: PubMed is a widely used database that contains a vast collection of scientific articles related to genetics and other medical fields. It is an excellent resource for accessing research articles that discuss TFAP2A gene variants and their implications on various diseases and conditions.

4. GeneTests: GeneTests is a comprehensive resource providing information about genetic tests, laboratories, and healthcare providers specializing in genetic testing. It offers information about TFAP2A gene tests, including the names of testing laboratories and the specific tests they offer.

5. Registry of Genes and Rare Diseases: This registry compiles information on genes and rare diseases, including those associated with TFAP2A gene variants. It serves as a valuable resource for identifying conditions related to the TFAP2A gene and provides information on patient registries, ongoing research, and available clinical trials.

6. Other Resources: In addition to the above databases, there are many other resources available for accessing information on the TFAP2A gene and its variants. These resources include scientific journals, textbooks, and genetic research institutes.

Studying the TFAP2A gene and its variants requires gathering information from multiple sources. By consulting gene and variant databases, researchers and healthcare professionals can gain a comprehensive understanding of the gene’s functions, associated conditions, and potential clinical implications.

References

AP-2α. OMIM. Retrieved from https://www.omim.org/entry/107580
TFAP2A gene. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/TFAP2A
TFAP2A. Testing Resources. Retrieved from https://www.ncbi.nlm.nih.gov/research/bionlp/RESTful/pmcentral/TFAP2A/
TFAP2A – Transcription factor AP-2 alpha. Gene Cards. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=TFAP2A
Krueger, M. (2010). Transcription factor AP-2 alpha (TFAP2A) mutations and branches syndrome. Eye. Coloboma and generalized anhidrosis. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/20393870
TFAP2A gene. Disease and normal gene expression. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/15124229
TFAP2A gene. Related diseases. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/14702039
TFAP2A gene. Catalog of Genes and Diseases. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/16831205
TFAP2A gene. Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/11102983
TFAP2A. Additional information on this gene. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/15060123