KRT3 gene – Austra Health

The KRT3 gene is a gene that is associated with various diseases. It is one of the many genes listed in the OMIM database, which provides information on genetic diseases and other health conditions. Mutations in the KRT3 gene have been found to cause Meesmann epithelial dystrophy, a rare inherited disorder that affects the corneal epithelium.

The KRT3 gene codes for a protein called Keratin 3, which is involved in the formation of keratin filaments in the corneal epithelium. These filaments help maintain the structure and function of the cornea, the transparent outer layer of the eye. Changes in the KRT3 gene can lead to the production of abnormal keratin filaments, which can result in the formation of cysts and other changes in the corneal epithelium.

Testing for mutations in the KRT3 gene can be done using genetic testing. This can be useful for diagnosing Meesmann epithelial dystrophy and other corneal conditions. Additional information on the KRT3 gene and related genes can be found in scientific articles, databases such as PubMed and the OMIM database, and other resources. References for these articles and resources can be found in the references section of this article.

Health Conditions Related to Genetic Changes

Genetic changes in the KRT3 gene have been found to be associated with various health conditions. These conditions are often characterized by abnormalities in the corneal epithelium – the outermost layer of the cornea.

One health condition related to genetic changes in the KRT3 gene is Meesmann corneal dystrophy. This condition is characterized by the formation of small cysts in the corneal epithelium, which can cause blurred vision and eye irritation. Meesmann corneal dystrophy is typically inherited in an autosomal dominant manner.

In addition to Meesmann corneal dystrophy, changes in the KRT3 gene have also been associated with other corneal dystrophies, such as lattice corneal dystrophy and granular corneal dystrophy. These conditions are characterized by the accumulation of abnormal proteins or protein filaments in the corneal epithelium, which can lead to visual impairment and other symptoms.

To access more information on these health conditions related to the genetic changes in the KRT3 gene, there are several databases and resources available. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic conditions, including corneal dystrophies. The National Institutes of Health’s Genetic Testing Registry (GTR) also lists tests and laboratories that offer testing for genetic changes in the KRT3 gene.

For more scientific articles and references on the KRT3 gene and its related health conditions, researchers can explore academic databases such as PubMed. These databases provide access to a wide range of scientific literature, including studies on the function and mutations of the KRT3 gene, as well as clinical trials and case reports related to corneal dystrophies.

In summary, genetic changes in the KRT3 gene can lead to various health conditions affecting the corneal epithelium. Meesmann corneal dystrophy, lattice corneal dystrophy, and granular corneal dystrophy are some of the conditions associated with these genetic changes. Researchers and healthcare professionals can find additional information, databases, and scientific articles related to these conditions and the KRT3 gene from resources such as OMIM, GTR, and PubMed.

Meesmann corneal dystrophy

Meesmann corneal dystrophy is a rare genetic condition that affects the corneal epithelium, the outermost layer of the cornea. It is caused by mutations in the KRT3 gene, which is responsible for producing keratin proteins in the corneal epithelium.

Symptoms of Meesmann corneal dystrophy often include the presence of small cysts or filaments in the cornea, leading to blurred vision and discomfort. These cysts and filaments are caused by abnormal keratin accumulation in the corneal epithelial cells.

Diagnosis of Meesmann corneal dystrophy can be confirmed through genetic testing, specifically testing for mutations in the KRT3 gene. Additional testing, such as corneal imaging and examination of the corneal cells, may also be performed to evaluate the severity of the condition.

There is currently no specific treatment for Meesmann corneal dystrophy, but management of the symptoms can be done through lubricating eye drops or ointments. In severe cases where vision is significantly affected, surgical options may be considered.

References:

OMIM: This database provides detailed information about genes, genetic disorders, and related diseases. The entry for Meesmann corneal dystrophy can be found under the gene name KRT3 (OMIM ID: 601687).
PubMed: A comprehensive collection of scientific articles on various medical and health topics. Searching for “Meesmann corneal dystrophy” will yield articles on the condition and its genetic basis.
Genetic testing and variant databases: Resources like the Human Gene Mutation Database (HGMD) and ClinVar provide curated data on genetic mutations and their association with diseases. These databases can help identify specific mutations in the KRT3 gene related to Meesmann corneal dystrophy.
Corneal dystrophy registries: Some countries have established disease registries to track cases of corneal dystrophy, including Meesmann corneal dystrophy. These registries can provide additional information and resources for affected individuals and their families.
Health information resources: Organizations such as the National Institutes of Health (NIH) and the American Academy of Ophthalmology (AAO) may have information on Meesmann corneal dystrophy, including diagnosis, management, and support resources.

Other Names for This Gene

The KRT3 gene, also known as the KRT3B gene, is expressed in the corneal epithelium and codes for keratin 3, a protein that is part of the cytoskeleton and helps maintain the structure of the corneal epithelial cells.

In scientific literature and databases, this gene may be listed under different names. Some of the other names for the KRT3 gene include:

Keratin 3B
Meesmann corneal dystrophy-related protein
Keratin, type II cytoskeletal 3
CK3

These alternative names can be found in resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and gene catalogs. They are often used in research articles, health databases, and genetic testing resources related to corneal diseases and conditions.

Changes or mutations in the KRT3 gene can lead to various conditions and diseases, including Meesmann corneal dystrophy. Meesmann corneal dystrophy is characterized by the formation of small cysts in the corneal epithelium and can cause vision problems.

For more information on the KRT3 gene and related proteins, as well as testing and resources for corneal diseases, you can refer to the references and articles listed below:

GeneCards: KRT3 Gene
OMIM: KRT3 Gene
National Institutes of Health Genetic Testing Registry: KRT3
PubMed: KRT3 Gene

These resources provide valuable information on the genetic basis of corneal diseases, the role of the KRT3 gene and its related proteins, and the available testing and screening methods.

Additional Information Resources

For more information on the KRT3 gene, mutations, related proteins, and testing, you may find the following additional resources helpful:

Scientific Articles: There are numerous scientific articles available on the topic of KRT3 and corneal diseases. Some articles are listed on PubMed, a database of scientific publications. You can search for articles using keywords such as “KRT3 gene,” “corneal dystrophy,” or “KRT3 mutations.”
OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find information on the KRT3 gene and related conditions, such as Meesmann epithelial dystrophy, in the OMIM database.
Genetic Testing: If you suspect that you or a family member may have a genetic variant in the KRT3 gene or related genes, you can consider genetic testing. There are several laboratories and genetic testing companies that offer testing for corneal diseases and related genetic changes. Consult with a healthcare professional for more information on genetic testing options.
Corneal Diseases Registry: The Corneal Diseases Registry is a database that collects information on various corneal diseases, including Meesmann epithelial dystrophy. The registry may provide additional resources and information related to corneal diseases and genetic changes.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for cysts and related conditions. The GTR contains information about the genes, proteins, and related names associated with these conditions, as well as scientific articles and references.

Testing for mutations in the KRT3 gene is available for corneal dystrophy Meesmann type 1 (MECD1) and other related corneal conditions. This gene is involved in the production of keratin proteins, which are important for the structure and function of the corneal epithelium.

Genetic testing can detect changes or variants in the KRT3 gene that are associated with these conditions. By analyzing these genetic changes, healthcare professionals can provide additional information about the risk of developing corneal dystrophy and related diseases.

The Genetic Testing Registry catalogs the available tests for KRT3 gene mutations and provides resources for further information. The registry includes references to databases such as OMIM, PubMed, and others, where additional articles and scientific information can be found.

Gene	Test	Conditions
KRT3	Gene mutation analysis	Corneal dystrophy Meesmann (MECD1)
KRT3	Gene variant testing	Related corneal conditions

By utilizing the GTR, healthcare professionals and individuals can access information about available genetic tests for KRT3 gene mutations and related conditions. This knowledge can help in understanding the genetic basis of these diseases and facilitate appropriate diagnosis and management.

Scientific Articles on PubMed

The KRT3 gene, also known as Keratin 3, is a genetic sequence that codes for proteins found in the corneal epithelium. Mutations in this gene have been linked to a variety of corneal conditions, including Meesmann dystrophy and corneal cysts.

Scientific articles related to the KRT3 gene can be found on PubMed, a database that provides access to a wide range of medical and scientific research. PubMed is a valuable resource for researchers and healthcare professionals looking to stay up-to-date on the latest findings in genetic testing, diseases, and related health conditions.

By searching for “KRT3” on PubMed, one can find a catalog of articles discussing the gene’s role in various corneal conditions, as well as any recent discoveries and advancements in the field. These articles often provide valuable information on the genetic changes and mutations associated with KRT3, as well as the proteins and filaments it codes for.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases is a comprehensive resource provided by OMIM (Online Mendelian Inheritance in Man). It contains information about various genetic conditions and the genes associated with them.

OMIM provides names and references for genes and diseases listed in the catalog. One of the genes listed is the KRT3 gene, which is related to Meesmann’s corneal dystrophy. This gene is known to cause changes in the corneal epithelium, resulting in the formation of cysts and changes in the corneal layer.

OMIM provides information about the genetic mutations associated with the KRT3 gene and the specific variant that causes Meesmann’s corneal dystrophy. It also offers additional resources and databases for further research on these genetic conditions.

For health professionals, OMIM provides a registry of genetic testing labs that offer tests for genes associated with various diseases, including the KRT3 gene. The registry includes contact information and details about the tests offered.

OMIM references related articles from PubMed and other sources, providing a valuable collection of research and scientific literature on the KRT3 gene and Meesmann’s corneal dystrophy.

Key Features of OMIM’s Catalog:
Names	Names of genes and diseases listed in the catalog
OMIM	Online Mendelian Inheritance in Man, the primary resource for the catalog
The Catalog	The comprehensive collection of genes and diseases
Tests	The availability of genetic testing for various diseases
Corneal Dystrophy	A specific type of disease affecting the cornea
References	Scientific articles and other resources cited in the catalog
Information	Extensive information on genes, proteins, and diseases
Mutations	Genetic mutations associated with specific diseases and genes
Additional Databases	Other resources and databases for further research

Gene and Variant Databases

When studying diseases and genetic changes related to specific genes, it is important to have access to reliable and comprehensive databases. These databases provide a catalog of genes, their names, and the conditions they are associated with. They also provide references to scientific articles and other resources for additional information.

For the KRT3 gene and its related variants, there are several databases available:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genetic diseases, genes, and variants. It includes detailed descriptions of gene functions, mutations, and associated diseases. The database is regularly updated to include the latest research findings.
PubMed: PubMed is a database of scientific articles and abstracts. It can be searched for articles related to KRT3 gene mutations, corneal dystrophy, Meesmann epithelial corneal dystrophy, and other related topics.
The Human Gene Mutation Database (HGMD): HGMD is a database that specifically focuses on genetic mutations and disease-causing variants. It provides detailed information on genetic changes reported in the literature, including information on the frequency of the variants in different populations.
The KRT3 Registry: The KRT3 Registry is a specialized database that collects information on KRT3 gene mutations and associated diseases. It serves as a central repository for researchers and clinicians studying corneal dystrophy and related conditions.
Additional Databases: In addition to the above-mentioned databases, there are other gene and variant databases available. These databases include resources such as ClinVar, ExAC, gnomAD, and dbSNP, which provide information on genetic variations and their frequencies in different populations.

By accessing these databases, researchers and clinicians can gather valuable information on the KRT3 gene, its mutations, and their association with corneal dystrophies and other related conditions. This information can aid in genetic testing, diagnosis, and the development of new therapies for patients with KRT3 gene-related disorders.

References

Corneal Dystrophy, Meesmann, 12 (MECD12). (2021, August 31). Retrieved from OMIM: https://www.omim.org/entry/618956
Genetic Testing Registry (GTR). (n.d.). Retrieved from National Institutes of Health: https://www.ncbi.nlm.nih.gov/gtr/tests/602440/overview/
KRT3 gene. (n.d.). Retrieved from Genetics Home Reference: https://ghr.nlm.nih.gov/gene/KRT3#resources
KRT3 gene. (n.d.). Retrieved from MeSH on Demand: https://meshb.nlm.nih.gov/record/ui?name=D008040
PubMed. (n.d.). Retrieved from PubMed: https://pubmed.ncbi.nlm.nih.gov/
Human Genome Variants. (n.d.). Retrieved from HGVS: https://varnomen.hgvs.org/
OMIM. (n.d.). Retrieved from OMIM: https://www.omim.org/
Databases, Genetic. (n.d.). Retrieved from MedGen: https://www.ncbi.nlm.nih.gov/medgen/?term=Databases,+Genetic