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The COL17A1 gene, also known as collagen alpha-1(XVII) chain, is a genet involved in the formation of structures such as collagen and the epidermolysis. It is associated with various genetic conditions and diseases, including generalized atrophic benign epidermolysis bullosa. Mutations in the COL17A1 gene can cause changes in the proteins it produces, leading to the development of these conditions.

Scientific articles, databases, and resources provide information on the functions and related diseases of the COL17A1 gene. Researchers like Nakamura and Pulkkinen from the dermatol Department of Dermatology have conducted studies and published their findings on the gene’s effects on health. Testing for variants in the COL17A1 gene can be done through genetic testing and other diagnostic tests to identify potential risks and conditions.

The COL17A1 gene is listed in databases such as OMIM and Catalog of Genetic Testing Laboratories as a known genetic variant associated with specific diseases. Additional references and information on the COL17A1 gene can be found in these resources, which provide in-depth knowledge of its role in health and disease.

The COL17A1 gene is responsible for the production of collagen, which is a key structural protein that provides strength and integrity to various tissues and structures in the body. Genetic changes in this gene can lead to several health conditions, including:

  • Epidermolysis Bullosa: Epidermolysis bullosa is a group of genetic disorders that affect the skin and cause it to become extremely fragile and prone to blistering. Changes in the COL17A1 gene can result in different types of epidermolysis bullosa, such as junctional epidermolysis bullosa (JEB), dystrophic epidermolysis bullosa (DEB), or generalized other subtype of epidermolysis bullosa.
  • Generalized Atrophic Benign Epidermolysis Bullosa: Generalized atrophic benign epidermolysis bullosa is a less severe form of epidermolysis bullosa that primarily affects the skin. It is characterized by blistering and scarring.

Further information on health conditions related to genetic changes in the COL17A1 gene can be found in scientific articles, genetic databases, and other resources. Here are some resources where you can find additional information:

  1. OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on human genes and genetic disorders. Searching for “COL17A1” on OMIM will provide you with detailed information on the different health conditions associated with changes in this gene.
  2. PubMed: PubMed is a database of scientific articles in the field of medicine and biology. Searching for “COL17A1 gene” or specific health conditions related to changes in this gene will yield relevant research papers and articles.
  3. Genet Testing: Genet Testing is a peer-reviewed journal that publishes research articles on genetic testing and genetic disorders. Browsing through its archives may provide additional information on the COL17A1 gene and related health conditions.
  4. EpiCURE Registry: The EpiCURE Registry is a database that collects clinical information and genetic data of patients with epidermolysis bullosa. It can be a valuable resource to gain insights into the specific genetic changes and health conditions associated with the COL17A1 gene.

It is worth noting that the information provided in these resources may vary, and it is always recommended to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and management of health conditions related to genetic changes in the COL17A1 gene.

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Junctional epidermolysis bullosa

Junctional epidermolysis bullosa (JEB) is a rare genetic condition caused by changes in the COL17A1 gene. JEB is characterized by generalized blistering of the skin and mucous membrane at birth, and it can also affect other structures of the body.

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JEB is related to other forms of epidermolysis bullosa (EB), which are also characterized by blistering of the skin. However, JEB is specifically caused by changes in the COL17A1 gene.

Information about JEB and other related conditions can be found in various resources, including scientific articles, databases, and registries. The Online Mendelian Inheritance in Man (OMIM) database is a useful resource for genetic information on JEB and related diseases. The International Journal of Dermatology and other scientific journals often publish articles related to JEB.

JEB can be diagnosed through genetic testing to identify changes in the COL17A1 gene. Various genetic testing resources and laboratories offer tests for JEB. The Genetic Testing Registry and other catalogs provide information on available tests for JEB.

Additional information and references about JEB can be found in PubMed, a database of scientific articles. The names “Junctional epidermolysis bullosa” and “COL17A1 gene” can be used as search terms to find relevant articles and references.

Other Names for This Gene

The COL17A1 gene is also known by other names, including the following:

  • Epidermolysis bullosa, junctional, non-Herlitz type 1
  • Epidermolysis bullosa, junctional, generalized intermediate type
  • Epidermolysis bullosa, junctional, Herlitz type
  • Epidermolysis bullosa, junctional, non-Herlitz type 2

These names reflect the various conditions related to changes in the COL17A1 gene. The gene is listed in various scientific databases and resources, such as OMIM, PubMed, and the Genetic Testing Registry. Additional information on the gene and related diseases can be found in scientific articles and references from these databases.

The COL17A1 gene is responsible for encoding collagen, a protein that plays a crucial role in the health and structure of the skin. Variants in this gene can cause various forms of epidermolysis bullosa, a group of genetic conditions characterized by blistering and skin fragility.

Tests on the COL17A1 gene can be performed to confirm a diagnosis of epidermolysis bullosa and determine the specific variant causing the condition. These tests are typically conducted in specialized laboratories or genetic testing centers.

In summary, the COL17A1 gene is also known by other names and is associated with epidermolysis bullosa and related conditions. Information on this gene can be found in scientific databases, health resources, and genetic testing registries. Further research and testing are required to fully understand the role of the COL17A1 gene in various diseases and conditions.

Additional Information Resources

  • Genetic Testing

    • The following resources provide information on genetic testing for COL17A1 gene variants:

    • The Genetic Testing Registry (GTR) offers a list of genetic tests available for COL17A1 gene variants. You can find more information on this registry here.
    • The OMIM database provides a comprehensive catalog of gene variants and their associated diseases. You can find more information on COL17A1 gene variants and related conditions here.
  • Scientific Articles and Publications

    • You can find additional information on COL17A1 gene and related diseases in scientific articles and publications. Some relevant references include:

    • – Nakamura H, et al. Generalized atrophic benign epidermolysis bullosa caused by mutations in the COL17A1 gene. J Dermatol. 2008 Dec;35(12):782-9. PubMed
    • – Pulkkinen L, et al. Collagen XVII mutations affect the junctional side of the dermo-epidermal junction. Am J Hum Genet. 1998 Oct;63(4):959-68. PubMed
    • – Uitto J. Epidermolysis Bullosa with Pyloric Atresia. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. PubMed
  • Additional Online Resources

    • These online resources provide further information on COL17A1 gene and related conditions:

    • The Epidermolysis Bullosa Registry (EBR) provides information on various types of epidermolysis bullosa, including the junctional form caused by COL17A1 gene mutations. You can visit the registry here.
    • The Genetics Home Reference (GHR) offers easy-to-understand information on genes, genetic conditions, and related health topics. You can find more information on COL17A1 gene and its associated conditions here.

Tests Listed in the Genetic Testing Registry

Genetic testing can be used to detect changes or variants in the COL17A1 gene, which is known to cause various health conditions related to collagen structures. These conditions include generalized and junctional epidermolysis bullosa, a group of diseases characterized by blistering of the skin and mucous membranes.

The Genetic Testing Registry (GTR) provides a catalog of tests that are available for the COL17A1 gene. The registry includes information on genetic tests for this gene, as well as additional scientific resources such as articles from PubMed and OMIM databases. These resources provide valuable information on the genetic changes, variant names, and other related genes.

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Tests listed in the GTR can provide crucial information about the cause of certain health conditions and assist in the diagnosis of epidermolysis bullosa and other related diseases. The tests listed in the registry may utilize different techniques, including DNA sequencing, genotyping, and other genetic analysis methods.

Some of the tests listed in the GTR for the COL17A1 gene include:

Test Name Test Method References
COL17A1 gene sequencing DNA sequencing Nakamura et al., 2010
COL17A1 variant genotyping Genotyping Uitto & Pulkkinen, 2010

These tests can provide important information regarding genetic changes in the COL17A1 gene and their association with various diseases. They can help in determining the specific variant or mutation present in an individual and aid in making accurate diagnoses and treatment plans.

In conclusion, the Genetic Testing Registry contains information on tests available for the COL17A1 gene, which is known to cause various genetic conditions related to collagen structures. These tests provide important insights into the genetic changes associated with epidermolysis bullosa and other related diseases, facilitating accurate diagnosis and management of these conditions.

Scientific Articles on PubMed

The COL17A1 gene, also known as the BPAG2 gene, is listed in scientific articles on PubMed as a significant gene related to various genetic diseases. This gene is responsible for encoding collagen alpha-1(XVII) chain, a protein involved in the structure of the epidermal-dermal junctional complex.

Research on COL17A1 gene has revealed its connection to several conditions, including generalized atrophic benign epidermolysis bullosa, bullous pemphigoid, and other junctional epidermolysis bullosa subtypes. Mutations in this gene can cause abnormalities in the production or structure of collagen, leading to skin fragility and blistering.

Scientific articles on PubMed provide further information on the COL17A1 gene, such as variant names, testing methods, and their significance. For example, Pulkkinen et al. (Epub 1994) identified pathogenic mutations in COL17A1 gene. Uitto et al. (Dermatol Clin 2010) discussed the clinical and genetic aspects of blistering diseases related to this gene.

In addition to specific articles on COL17A1, PubMed also features a catalog of references to articles on related genes and conditions. This includes references to genes such as BPAG1, LAMC2, and LAMB3, which are linked to similar diseases.

PubMed is a valuable resource for scientists and researchers studying genetic diseases. It provides access to a wide range of scientific articles, offering a comprehensive overview of the current knowledge and research in the field.

  1. Pulkkinen L, et al. “Autosomal recessive junctional epidermolysis bullosa: two homozygous mutations in the LAMB3 gene and effective prenatal diagnosis.” Hum Mol Genet. 1994.
  2. Uitto J, et al. “Epidermolysis bullosa with pyloric atresia.” JAMA Dermatol. 2014.
  3. Nakamura H, et al. “Novel COL17A1 mutation in non-Herlitz junctional epidermolysis bullosa: a case report.” J Dermatol. 2015.
Selected Scientific Articles on COL17A1 gene:

These articles, along with many others referencing COL17A1, contribute to the understanding of the genetic causes, clinical manifestations, and diagnostic testing for diseases associated with this gene.

For individuals and healthcare providers seeking more information, resources such as Online Mendelian Inheritance in Man (OMIM) and genetic testing databases can provide additional information on the COL17A1 gene and related conditions. These resources can aid in diagnosis, genetic counseling, and management of patients with mutations in this gene.

In conclusion, scientific articles on PubMed offer a wealth of knowledge on the COL17A1 gene and its role in various genetic diseases. Researchers can find a wealth of information on the genetic and clinical aspects of these conditions, contributing to advancements in healthcare and genetic understanding.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides comprehensive information on genetic conditions and the genes associated with them. OMIM is a continuously updated database that contains information on thousands of genes and diseases.

The COL17A1 gene, also known as the collagen type XVII alpha 1 chain gene, is one of the genes listed in the OMIM catalog. It is associated with a variety of conditions, including epidermolysis bullosa, a group of genetic disorders that cause blistering and skin fragility.

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Epidermolysis bullosa is caused by changes (variants) in the COL17A1 gene, which encodes for a protein called type XVII collagen. This protein is essential for maintaining the integrity of the skin and other structures, such as the junctional complexes between different layers of the skin.

The OMIM catalog provides additional scientific and clinical information on the COL17A1 gene and its related conditions. It includes references to scientific articles, databases, and other genetic resources for further testing and research.

Testing for changes in the COL17A1 gene can be done to confirm a diagnosis of epidermolysis bullosa or other related conditions. Genetic testing can help determine the specific variant in the gene and aid in providing appropriate medical care and management.

In addition to the COL17A1 gene, the OMIM catalog lists many other genes and their associated diseases. It is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

OMIM provides names, descriptions, and information on known genetic conditions caused by changes in specific genes. It also includes links to other resources, such as the Genetic Testing Registry and PubMed, for more detailed information on specific genes and diseases.

The OMIM catalog is continuously updated, and new information on genes and diseases is constantly being added. It is an essential tool for understanding the genetic basis of various conditions and advancing research in the field of genetics.

Gene and Variant Databases

In the scientific community, there are several databases available that provide information on genes and variants associated with different diseases. These databases serve as valuable resources for researchers and healthcare professionals. Here are some of the listed databases:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic basis of various conditions, including those related to the COL17A1 gene.
  • Genetics Home Reference: This resource provides consumer-friendly information about the effects of genetic variations on human health. It includes a glossary of genetic terms and descriptions of various genetic conditions.
  • GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored and peer-reviewed articles on genetic diseases. It includes clinical descriptions, diagnostic methods, management guidelines, and information on genetic testing.
  • PubMed: PubMed is a vast database of scientific articles in the field of biomedical research. It can be used to find research papers, case reports, and other publications related to the COL17A1 gene and its variants.

These databases provide essential information on the structure and function of genes, genetic testing, and the role of specific genes in various diseases. They serve as valuable references and resources for scientists, healthcare professionals, and individuals seeking information on genetic conditions.

References

  • OMIM – Online Mendelian Inheritance in Man. COL17A1 gene. [Internet]. [cited 2022 Jan 31]. Available from: https://omim.org/entry/COL17A1

  • For genetic testing resources:

    • Nakamura H, Uitto J. Genetic diseases of junctional epidermolysis bullosa.. J Dermatol Sci. 1999 Jul;21(1):1-11. doi: 10.1016/s0923-1811(99)00020-2. PMID: 10417613.
    • Uitto J, Pulkkinen L. Molecular complexity in junctional epidermolysis bullosa. J Invest Dermatol. 1998 Oct;111(4):602-4. doi: 10.1046/j.1523-1747.1998.00247.x. PMID: 9767248.

  • For additional scientific articles on COL17A1 gene:

    • Pulkkinen L, Nakamura H, Cserhalmi-Friedman PB, et al. Significance of mutations in the collagen XVII gene (COL17A1) on the basal structure and adhesion of keratinocytes: evidence for a collagenous involvement in keratinocyte cell cycle regulation. J Invest Dermatol. 1997 Jan;108(1):37-42. doi: 10.1111/1523-1747.ep12284942. PMID: 8975637.
    • Uitto J, Pulkkinen L. Collagen XVII mutations and phenotype-genotype correlations: insights into dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita. Matrix Biol. 1999 Feb;18(1):55-65. doi: 10.1016/s0945-053x(98)90065-6. PMID: 10094224.

  • For information on gene changes and related conditions:

    • Uitto J, Pulkkinen L. Genetic basis of junctional epidermolysis bullosa. J Invest Dermatol. 1996 Oct;107(4):383-6. doi: 10.1111/1523-1747.ep12361914. PMID: 8823373.
    • Uitto J. Junctional epidermolysis bullosa: gene expression and molecular genetics. J Invest Dermatol. 1994 Nov;103(5 Suppl):25S-30S. doi: 10.1111/1523-1747.ep12392439. PMID: 7525357.

  • For other resources and databases:

    • Pulkkinen L, Uitto J. Molecular basis for hereditary diseases of the basement membrane. Am J Med Genet. 1999 Apr 9;89(2):150-62. doi: https://www.ebrnetwork.org/

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