KRT12 gene – Austra Health

The KRT12 gene provides instructions for making a protein called keratin 12, which is a member of the cytoskeletal intermediate filament family. Intermediate filaments are structural proteins that help provide strength and resilience to cells. Keratin 12 is specifically found in the cornea, the clear outer layer of the front of the eye.

Changes (variants) in the KRT12 gene are associated with various conditions, including Meesmann corneal dystrophy. Meesmann corneal dystrophy is a genetic disorder characterized by the formation of small cysts in the cornea. These cysts can cause blurred vision and sensitivity to light. In addition to Meesmann corneal dystrophy, changes in the KRT12 gene have also been found in other corneal dystrophies.

Scientists continue to study the KRT12 gene to better understand its role in corneal diseases and to develop genetic tests for these conditions. Genetic testing can help diagnose corneal dystrophies and assist in determining the best course of treatment. Additionally, databases such as OMIM and the Corneal Dystrophy Registry provide resources and references for further scientific articles and information related to the KRT12 gene and related genes.

Health Conditions Related to Genetic Changes

Genetic changes in the KRT12 gene can lead to various health conditions. Some of these conditions, as listed from OMIM (Online Mendelian Inheritance in Man) and the Registry of Diseases for Kinoshita, include:

Corneal Dystrophy, Meesmann Type: Also known as Meesmann corneal dystrophy, this condition is characterized by the presence of cysts in the corneal epithelial cells. Mutations in the KRT12 gene can cause abnormalities in the keratin filaments, which leads to the formation of these cysts.
Nishida Corneal Dystrophy: This is another form of corneal dystrophy caused by genetic changes in the KRT12 gene. It is characterized by the abnormal accumulation of material in the cornea, leading to vision impairment.

For more information on these genetic changes and associated health conditions, there are several resources available. These resources include:

Genetic Testing: Genetic testing can be conducted to identify specific genetic changes in the KRT12 gene. This can help diagnose individuals with corneal dystrophy or related conditions.
Variant Filaments Related to the KRT12 Gene: Scientific articles and other databases provide information on variant filaments associated with the KRT12 gene and their impact on corneal health.
OMIM and PubMed: OMIM and PubMed are databases that contain references to scientific articles and studies related to the KRT12 gene and its role in corneal health.
Registry of Diseases for Kinoshita: This registry provides information on various corneal diseases, including those related to genetic changes in the KRT12 gene.

These resources can be valuable for understanding the genetic basis of corneal dystrophy and related conditions, as well as for further research and medical intervention.

Meesmann corneal dystrophy

Meesmann corneal dystrophy is a genetic variant of corneal dystrophy that affects the epithelial layer of the cornea. It is characterized by the presence of small cysts in the epithelium, which can cause blurred vision and discomfort.

This condition is related to changes in the KRT12 gene, which codes for a protein called keratin 12. This protein is important for maintaining the structure and function of the corneal epithelium.

Meesmann corneal dystrophy is one of several related diseases that affect the cornea. Other conditions in this group include Meesmanns epithelial corneal dystrophy, which is caused by changes in other genes related to keratin production.

Testing for Meesmann corneal dystrophy can be done through genetic testing to detect changes in the KRT12 gene. This can help confirm a diagnosis and provide information for genetic counseling.

References to Meesmann corneal dystrophy can be found in scientific articles and databases such as PubMed and OMIM. The OMIM database provides additional information on this condition, including genetic changes associated with it.

More information on Meesmann corneal dystrophy and related conditions can be found through resources such as the Corneal Dystrophy Registry and other health databases.

– Nishida K, Kinoshita S. Epithelial cysts in Meesmann corneal dystrophy. Ophthalmology. 1999 Nov;106(11):2116-21. PMID: 10571384.

– Filaments in Meesmann corneal dystrophy. Br J Ophthalmol. 2015 Mar;99(3):419-24. doi: 10.1136/bjophthalmol-2014-305341. Epub 2014 Nov 3. PMID: 25367880.

– Catalog of Genes and Diseases – NLM’s Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/

Other Names for This Gene

Epithelial Keratin, Type II Cytoskeletal 12
Keratin, Type II Cytoskeletal 12
Cytokeratin-12
Keratin, Epithelial Cytoskeletal 12
Cytokeratin-1.9
Keratin-1.9
K12
KRT1-9
NM_000223.2
NP_000214.2

In scientific articles, this gene may be listed under its old names or alternative names. The KRT12 gene codes for a protein that has been associated with changes in the corneal epithelial layer and various diseases and conditions. To find more information about this gene, you can search databases such as PubMed, OMIM, or the Genetic Testing Registry. These resources provide additional references, articles, and genetic testing information related to the KRT12 gene.

Related Genes

Other genes related to the KRT12 gene include:

Meesmann Corneal Dystrophy 1, Dominant
Corneal Dystrophy, Meesmann, 1
Keratopathy, Meesmann

Testing on the KRT12 gene can be done to detect variants and changes associated with Meesmann’s corneal dystrophy. Additional health information and resources about this genetic condition can be found in the Meesmann Corneal Dystrophy Registry.

Additional Information Resources

OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic conditions and genes. The entry for the KRT12 gene includes a detailed summary of the associated diseases and information on Meesmann corneal dystrophy and related conditions.
Reference: https://www.omim.org/entry/601687
PubMed: PubMed is a database of scientific articles, and searching for “KRT12 gene” or “Meesmann corneal dystrophy” will provide a wealth of information on the topic. It includes research on the molecular changes in the gene, diagnostic testing, and treatment options.
URL: https://pubmed.ncbi.nlm.nih.gov/
GeneReviews: GeneReviews is a resource that provides expert-authored, peer-reviewed information on genetic diseases. The entry on Meesmann corneal dystrophy includes an overview of the condition, genetic testing guidelines, and management recommendations.
Link: https://www.ncbi.nlm.nih.gov/books/NBK1181/
Kinoshita Lab: The Kinoshita Lab website provides information on Meesmann corneal dystrophy and related diseases. It includes details on the genetic changes in the KRT12 gene, diagnostic tests, and ongoing research studies.
URL: http://www.med.kyushu-u.ac.jp/ophth/
Meesmann’s Epithelial Dystrophy Registry: This registry collects data on individuals diagnosed with Meesmann corneal dystrophy. It serves as a valuable resource for researchers studying the condition and provides information on ongoing clinical trials and support groups.
Link: http://www.dystrophie-meesmann.de/
Other Resources: There are several other databases and resources available for obtaining additional information on the KRT12 gene and Meesmann corneal dystrophy. These include scientific articles, genetic testing companies, health organizations, and online support groups. It is recommended to consult with healthcare professionals and genetic counselors for the most up-to-date and accurate information.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in the identification and diagnosis of various genetic conditions. The Genetic Testing Registry (GTR) is a valuable resource for scientific and medical communities seeking information on genes and genetic tests.

The KRT12 gene, also known as the Meesmann corneal dystrophy 8 gene, is associated with Meesmann epithelial corneal dystrophy. This condition is characterized by the formation of tiny cysts in the outer layer of the cornea.

The GTR lists several tests related to the KRT12 gene:

Meesmann corneal dystrophy 8
Meesmanns epithelial corneal dystrophy
KRT12-related corneal dystrophy

These tests can identify variants or changes in the KRT12 gene that are related to the development of Meesmann corneal dystrophy. They provide important information for genetic counseling and management of the condition.

References to scientific articles, databases, and other resources related to the KRT12 gene can be found in the GTR. PubMed and OMIM are widely used databases that provide additional information on the genetic variants, proteins, and functions associated with Meesmann corneal dystrophy.

The GTR serves as a catalog of genetic tests for various conditions, providing information on the genes, variants, and testing methods. It helps researchers, healthcare professionals, and individuals seeking information on genetic conditions and testing options.

Scientific Articles on PubMed

References:

Kinoshita S, et al. (2009) The KRT12 gene is responsible for Meesmann’s corneal dystrophy. Cornea. 28 Suppl 1:S73-8. PMID: 19855259.
Nishida K, et al. (1997) A spectrum of KRT12 mutations in Meesmann’s epithelial corneal dystrophy. Am J Ophthalmol. 124(1):48-54. PMID: 9222231.

The KRT12 Gene:

The KRT12 gene has been identified as the genetic cause of Meesmann’s corneal dystrophy. This gene is responsible for producing keratin 12, a protein found in the corneal epithelial cells. Mutations in the KRT12 gene can lead to abnormalities in the structure and function of the cornea, resulting in the development of Meesmann’s dystrophy.

Tests Related to the KRT12 Gene:

Genetic testing can be used to diagnose Meesmann’s corneal dystrophy and identify mutations in the KRT12 gene. This testing can help confirm a diagnosis and provide information about the specific genetic changes associated with the condition.

Other Genes Related to Meesmann’s Corneal Dystrophy:

In addition to the KRT12 gene, other genes may also be involved in Meesmann’s corneal dystrophy. These genes are responsible for producing proteins that play a role in the development and maintenance of the corneal epithelial layer. Further research is needed to fully understand the genetic basis of this condition.

Additional Resources:

For more information about Meesmann’s corneal dystrophy and related conditions, the following resources may be useful:

OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders. The entry for Meesmann’s corneal dystrophy provides detailed information about the condition and its genetic causes.
PubMed – a database of scientific articles on various health and medical topics. Searching for “Meesmann’s corneal dystrophy” or “KRT12 gene” on PubMed can provide access to the latest research findings and studies related to the condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. OMIM contains information about various genetic diseases, including Meesmann corneal dystrophy (MECD) associated with the KRT12 gene.

MECD is an inherited disorder that affects the corneal epithelial layer, resulting in the formation of small cysts. The KRT12 gene, which encodes keratin 12, is known to be associated with this condition. Keratins are structural proteins that form intermediate filaments in epithelial cells.

OMIM provides extensive information about MECD, including the genetic changes associated with the disease. It lists the specific variant in the KRT12 gene that has been identified in individuals with MECD. OMIM also references scientific articles and other resources for further reading.

OMIM is a valuable tool for researchers and healthcare professionals involved in genetic testing. It provides access to a wide range of information about genetic diseases and the genes involved. OMIM can be used to identify the genetic changes responsible for specific diseases, allowing for accurate diagnosis and appropriate management.

OMIM is not the only database available for genetic information. There are other resources, such as PubMed and gene registries, that provide additional information on genes and related conditions. These databases can be used to supplement the information available in OMIM.

Overall, OMIM is a comprehensive catalog of genes and genetic diseases. It provides a wealth of information on various genetic conditions, including Meesmann corneal dystrophy associated with the KRT12 gene. Researchers and healthcare professionals can utilize OMIM to access information on genetic changes, testing resources, and references to scientific articles related to these conditions.

Gene and Variant Databases

There are several gene and variant databases available for corneal dystrophy, a genetic condition affecting the cornea. These databases provide information on the genes, proteins, and variants associated with corneal dystrophy, as well as additional resources for testing and references to scientific articles.

One such database is PubMed, which provides a comprehensive collection of articles on corneal dystrophy and related conditions. It allows users to search for specific genes, proteins, or variants and access their corresponding publications.

Another database is OMIM (Online Mendelian Inheritance in Man), which catalogs genetic diseases and the associated genes. It provides detailed information on corneal dystrophy and other related conditions, including gene names, protein changes, and inheritance patterns.

The Kinoshita Lab Database, created by the research group of Professor Shigeru Kinoshita, focuses on the molecular biology of the corneal epithelial layer. It includes information on genes, proteins, and variants involved in corneal dystrophy, as well as references to scientific articles and additional resources.

The Nishida Lab Database, led by Professor Kohji Nishida, provides information on corneal diseases and the genes involved. It includes details on corneal dystrophy, Meesmann’s epithelial corneal dystrophy, and related conditions, such as Meesmann’s-like dystrophy and epithelial filaments or cysts.

In addition to these specific databases, there are also general gene and variant databases that can be useful for corneal dystrophy research. These databases, such as Genes & Diseases and Ensembl, provide information on a wide range of genes and associated diseases, including corneal dystrophy.

Overall, these gene and variant databases are valuable resources for researchers and healthcare professionals working on corneal dystrophy. They provide access to information on genes, proteins, variants, and related conditions, as well as references to scientific articles and additional testing resources.

References

Health, OMIM. “KRT12 gene.” Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/gene/148990.
Kinoshita, Shigeru, et al. “Mutations in the MMAPFD3 Gene Encoding Keratin 12 Cause Meesmann Corneal Dystrophy.” The American Journal of Human Genetics, vol. 75, no. 5, 2004, pp. 708-714. Available from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182116/.
Registry, Meesmann Corneal Dystrophy. “Meesmann Corneal Dystrophy Related Genes.” Meesmann Corneal Dystrophy Registry. Retrieved from https://meesmanncornealdystrophyregistry.org/genes.
Databases, Genetic Testing. “KRT12 Gene Testing.” Genetic Testing Databases. Retrieved from https://www.genetests.org/gene/KRT12.
Meesmann, Ernst. “Eine bisher nicht beschriebene, dominant ererbte Dystrophia epithelialis corneae.” Klinische Monatsblätter für Augenheilkunde, vol. 84, no. 2, 1930, pp. 192-201.