The SERPINA7 gene, also known as the thyroxine-binding globulin inhibitor, is responsible for producing a proteinase inhibitor called thyroxine-binding globulin. This gene is inherited and can be found in other genes related to inherited proteinase inhibitors.

The deficiency of SERPINA7 has been linked to various diseases and conditions, including changes in the levels of thyroxine-binding globulin. The information on this gene can be found in various resources and databases, such as OMIM, PubMed, and other genetic variant catalogs and registries.

Scientific articles, references, and testing resources related to SERPINA7 can also be listed in these databases. Additional information on this gene and its related disorders and conditions can be found through scientific testing and research.

Health Conditions Related to Genetic Changes

Genetic changes in the SERPINA7 gene are associated with various health conditions. SERPINA7 is a gene that encodes the thyroxine-binding globulin (TBG) protein, which plays a crucial role in binding and carrying thyroid hormones in the bloodstream. Mutations or other genetic changes in the SERPINA7 gene can lead to inherited disorders and diseases.

One example of a health condition related to genetic changes in the SERPINA7 gene is TBG deficiency. TBG deficiency occurs when there is a mutation in the gene that produces a dysfunctional or decreased amount of TBG protein. This can result in abnormal levels of thyroid hormones, specifically thyroxine.

Testing for genetic variants in the SERPINA7 gene can be done using various resources and databases. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are scientific databases that provide articles and references on genetic changes in the SERPINA7 gene. Additionally, the Genetic Testing Registry (GTR) lists laboratories and tests available for detecting genetic changes in the SERPINA7 gene.

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It is important to note that genetic changes in the SERPINA7 gene can also be associated with other disorders and conditions. Further research and testing are necessary to determine the full range of health conditions related to these genetic changes.

In conclusion, the SERPINA7 gene and its genetic changes are linked to various health conditions. These conditions, such as TBG deficiency, can impact the levels of thyroxine-binding globulin in the body and contribute to abnormalities in thyroid hormone levels. Additional research and testing are needed to fully understand the scope of health conditions related to genetic changes in the SERPINA7 gene.

Inherited thyroxine-binding globulin deficiency

Inherited thyroxine-binding globulin deficiency is a genetic disorder characterized by a deficiency of the thyroxine-binding globulin (TBG) protein. TBG is a carrier protein that binds to thyroid hormones, particularly thyroxine (T4), in the bloodstream. This deficiency can result in abnormal thyroid hormone levels and may lead to symptoms such as fatigue, weight gain, and cold intolerance.

The genetic information for inherited thyroxine-binding globulin deficiency is listed in the Online Mendelian Inheritance in Man (OMIM) database under the entry number #314200. Additional information on related disorders and genetic testing resources can be found in other articles on thyroxine-binding globulin-related disorders.

Genetic testing can be performed to confirm the presence of a TBG deficiency. These tests analyze the genes associated with TBG production and can identify changes or variants in these genes that may cause the deficiency. The results of these genetic tests can provide valuable information for diagnosis, management, and genetic counseling.

Scientific articles, PubMed references, and other scientific resources can provide more detailed information on the genetics, tests, and conditions associated with inherited thyroxine-binding globulin deficiency. The Human Gene Mutation Database, Genetic Testing Registry, and PubMed are databases where more information can be found.

It is important to note that inherited thyroxine-binding globulin deficiency is a rare condition. Therefore, healthcare professionals and individuals seeking information about this variant should consult with medical experts and refer to reputable sources for accurate information and support.

Other disorders

The SERPINA7 gene is associated with various other disorders. These disorders are inherited conditions that result in changes to the serine protease inhibitor protein encoded by the SERPINA7 gene. Some of these conditions include:

• Thyroxine-binding globulin deficiency: This is a genetic variant in which there is a deficiency of thyroxine-binding globulin, a protein encoded by the SERPINA7 gene. This condition can lead to abnormal levels of thyroid hormone in the blood.
• Serine protease inhibitor protein deficiency: Similar to thyroxine-binding globulin deficiency, this is a genetic variant in which there is a deficiency of the serine protease inhibitor protein produced by the SERPINA7 gene.
• Related disorders: In addition to the specific disorders mentioned above, genetic variants in the SERPINA7 gene may have additional effects on other related genes and proteins, leading to the development of various disorders.

Testing for these disorders can be done through genetic testing, which involves analyzing changes in the SERPINA7 gene. Information about these tests and other diagnostic resources can be found in scientific databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide a catalog of genetic tests, articles, and references for the discovery and understanding of these disorders.

Other Names for This Gene

The SERPINA7 gene is also known by other names, including:

• Thyroxine-binding globulin deficiency
• Proteinase inhibitor 7
• Gene test registry number 20227
• TBG deficiency
• Globulin inhibitor, serine proteinase

Inherited changes in this gene can lead to various health conditions and disorders. Some of these conditions are:

1. Thyroxine-binding globulin deficiency
2. Thyroxine-binding globulin deficiency, autosomal dominant
3. Thyroxine-binding globulin deficiency, autosomal recessive
4. Thyroxine-binding globulin variant
5. Thyroxine-binding globulin, decreased

Additional information about this gene and its related conditions can be found in scientific articles and databases. Some of the resources that provide relevant information include:

• Online Mendelian Inheritance in Man (OMIM) database
• Genetic Testing Registry (GTR)
• PubMed database
• Catalog of Genes and Diseases

Genetic testing is available for the SERPINA7 gene to detect and diagnose these disorders. Thyroxine-binding tests are used to measure the levels of thyroxine-binding globulin in the blood. These tests can help identify genetic changes and variants in the SERPINA7 gene.

References:

• OMIM: https://omim.org
• Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/
• PubMed: https://pubmed.ncbi.nlm.nih.gov
• Catalog of Genes and Diseases: https://www.ncbi.nlm.nih.gov/cg

Additional Information Resources

• Pubmed – a database of scientific articles on the SERPINA7 gene, its variants, and their association with various disorders.
• OMIM (Online Mendelian Inheritance in Man) – a catalog of human genetic disorders and associated genes. It provides information on SERPINA7 gene deficiency and related disorders.
• Variant Databases – online databases that collect information on genetic variants, including those in the SERPINA7 gene. These databases provide details on the names, changes, and frequencies of variants.
• Thyroxine-binding Globulin (TBG) Deficiency Registry – a registry for individuals with TBG deficiency. It provides information on testing, diagnosis, and management of the condition.
• Health Testing – a resource for genetic testing services that offer tests for SERPINA7 gene variants and associated disorders.
• References – scientific articles and publications that reference SERPINA7 gene, its proteinase inhibitor function, and its role in inherited conditions.
• Other Genes – information on other genes and proteinase inhibitors that are related to SERPINA7 and may have implications in similar inherited conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and test providers. The GTR provides information on genetic tests for a wide range of diseases and conditions, including those related to the SERPINA7 gene. Individuals with changes (variants) in the SERPINA7 gene may be at risk for certain diseases and disorders.

The SERPINA7 gene, also known as thyroxine-binding globulin inhibitor (TBG-I), encodes a protein called serpin peptidase inhibitor, clade A member 7. Variants in this gene can lead to deficiency or abnormalities in the serpin protein, which can affect its function in inhibiting proteinase enzymes.

Different genetic tests are available to identify variants in the SERPINA7 gene. These tests can help diagnose and assess the risk of inherited diseases and conditions related to SERPINA7 gene changes. Some of the tests listed in the GTR include:

• Genetic tests for SERPINA7 gene variants
• Tests to identify thyroid hormone disorders and related conditions
• Tests for inherited deficiency of thyroxine-binding globulin (TBG)

The GTR provides additional resources and information on each of these tests, including the scientific names of genes and proteins, references to articles in PubMed and other databases, and related resources on genetic changes, diseases, and health conditions. This information can be used by healthcare professionals, researchers, and individuals seeking information on genetic testing for SERPINA7 gene variants.

It is important to consult with a healthcare professional and genetic counselor to determine the most appropriate genetic tests based on individual circumstances and family history. Genetic testing can provide valuable insights into the risk of developing certain diseases and conditions and help guide personalized healthcare decisions.

Scientific Articles on PubMed

The SERPINA7 gene variant and its association with various conditions have been extensively studied and documented in scientific articles available on PubMed. PubMed is a comprehensive online database that serves as a registry for scientific articles related to health and diseases.

The SERPINA7 gene encodes for thyroxine-binding globulin, a proteinase inhibitor that binds to thyroxine. Changes in this gene have been listed in various articles, providing valuable genetic information for healthcare professionals.

Several scientific articles on PubMed discuss the association of SERPINA7 gene variants with genetic disorders and other related conditions. These articles can serve as a valuable resource for researchers and healthcare practitioners looking for additional information on the gene and its role in various diseases.

Inherited genetic disorders related to the SERPINA7 gene, such as thyroxine-binding globulin deficiency, are extensively discussed in scientific articles on PubMed. These articles provide essential information on genetic testing, gene names and aliases, and available diagnostic resources for these disorders.

Scientific articles on PubMed also cover the testing and variant analysis of other genes in relation to thyroxine-binding globulin deficiency and related disorders. These articles provide valuable insights into the genetic mechanisms and inheritance patterns of these conditions.

Overall, the scientific articles available on PubMed provide a wealth of information on the SERPINA7 gene, its variants, and their association with various conditions and disorders. Researchers and healthcare professionals can rely on these articles to stay updated with the latest advancements in the field of genetic research.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genes and their associated diseases. OMIM is a database that documents human genes and genetic disorders, leveraging information from scientific articles, databases, and other resources.

The SERPINA7 gene, also known as thyroxine-binding globulin (TBG) gene, is one of the genes listed in the OMIM catalog. This gene encodes the protein thyroxine-binding globulin, which is involved in the transport and metabolism of the thyroid hormone thyroxine.

Genetic changes or variants in the SERPINA7 gene can lead to thyroxine-binding globulin deficiency, a condition characterized by reduced levels or impaired function of the thyroxine-binding globulin protein. This deficiency can affect the regulation of thyroid hormone levels and lead to thyroid-related disorders.

OMIM provides information on genetic testing for SERPINA7 gene-related disorders. Genetic testing involves analyzing an individual’s DNA to identify changes or mutations in specific genes. This testing can help diagnose genetic disorders and provide information for personalized treatment plans.

In addition to the SERPINA7 gene, OMIM catalogs various other genes and their associated disorders. The catalog provides detailed information on the genetic basis, inheritance patterns, clinical manifestations, and management of these disorders.

OMIM also provides references to scientific articles, databases, and other resources for additional information on genes and diseases. These resources include PubMed, a database of biomedical literature, and gene variant databases that curate information on specific genetic variants.

The OMIM catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic disorders. It facilitates the understanding, diagnosis, and management of inherited diseases by providing comprehensive and up-to-date information on genes and their associated disorders.

References:

• Online Mendelian Inheritance in Man (OMIM). Available at: https://omim.org/

• Thyroxine-binding globulin deficiency. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/5196/thyroxine-binding-globulin-deficiency

Gene and Variant Databases

In the scientific community, various databases are available to collect and store information related to genes and variants. These databases serve as valuable resources for researchers and healthcare professionals in understanding the genetic basis of diseases and disorders.

One such database that provides information on the SERPINA7 gene is the OMIM (Online Mendelian Inheritance in Men) catalog. OMIM is a comprehensive resource that lists inherited disorders and genes associated with them. It includes articles, references, and genetic testing resources for a wide range of diseases and conditions.

The SERPINA7 gene, also known as the Thyroxine-binding globulin and TBG gene, is listed in the OMIM catalog. This gene encodes the thyroxine-binding globulin protein, which plays a crucial role in transporting thyroid hormones in the bloodstream.

For additional information on the SERPINA7 gene and its variants, researchers and healthcare professionals can also refer to PubMed. PubMed is a widely used database that provides access to a vast collection of scientific articles and publications.

In addition to OMIM and PubMed, there are other databases available that focus on genetic testing and variant information. These resources include the GeneTests and Genetic Testing Registry databases. GeneTests provides information on genetic tests for various diseases and conditions, including those related to the SERPINA7 gene. The Genetic Testing Registry, on the other hand, catalogues information about genetic tests and their associated variants.

Overall, gene and variant databases play a crucial role in facilitating scientific research, genetic testing, and understanding the genetic basis of diseases and disorders. These resources provide a wealth of information that helps researchers and healthcare professionals make informed decisions about genetic testing, diagnosis, and treatment.

References

The SERPINA7 gene, also known as thyroxine-binding globulin inhibitor, is associated with a variety of genetic and inherited disorders. The gene is listed on various genetic databases and scientific resources for information related to genetic conditions and testing.

• OMIM database: The SERPINA7 gene variant and related disorders are listed in the Online Mendelian Inheritance in Man (OMIM) database. This database provides comprehensive information on the genetic basis of human diseases.
• PubMed articles: Numerous scientific articles on the SERPINA7 gene variant and its association with various disorders can be found on PubMed. These articles provide valuable insights into the role of this gene in different health conditions.
• Genetic testing: Several genetic testing companies offer tests for variants in the SERPINA7 gene. These tests can provide information about an individual’s genetic predisposition to certain diseases and conditions.
• Registry of genetic variants: The SERPINA7 gene variant is included in the registry of genetic variants, a resource that catalogues known genetic changes and their associated conditions.

Further information on the SERPINA7 gene and its role in thyroxine-binding globulin inhibition can be found in scientific literature and online databases dedicated to genetic research and health.