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The TCIRG1 gene is a gene that is associated with a rare genetic disorder called osteopetrosis. According to PubMed, osteopetrosis is a group of rare inherited disorders in which there are defects in the remodeling of bones. Osteopetrosis can cause severe bone changes and can lead to other health problems. The TCIRG1 gene is necessary for the regulation of proton pumps in the osteoclasts, a type of bone cell responsible for bone remodeling.

According to the TCIRG1 Gene entry in the Online Mendelian Inheritance in Man (OMIM) database, mutations in the TCIRG1 gene cause autosomal recessive osteopetrosis with neonatal hypocalcemia. The TCIRG1 gene encodes a subunit of the V-ATPase proton pump, which is responsible for the acidification of the bone resorption compartment.

The TCIRG1-related conditions listed on the OMIM registry include infantile malignant osteopetrosis and osteopetrosis with renal tubular acidosis.

Testing for variants in the TCIRG1 gene can be done through genetic testing laboratories. According to the Genetics Home Reference, a free online resource provided by the National Library of Medicine, testing for TCIRG1 gene mutations can help diagnose osteopetrosis and other related conditions.

Genetic changes can lead to various health conditions. The TCIRG1 gene is one such gene that can undergo genetic changes, resulting in certain health conditions. The scientific catalog, OMIM, provides information on health conditions related to genetic changes in the TCIRG1 gene.

The TCIRG1 gene codes for the v-type proton ATPase 116 kDa subunit a isoform 3 protein, which is a component of the v-ATPase proton pump. This proton pump is responsible for acidifying various compartments in the body and plays a crucial role in bone remodeling.

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Genetic changes in the TCIRG1 gene can lead to a condition called osteopetrosis. Osteopetrosis is a group of rare genetic diseases characterized by the excessive hardening and thickening of bones. This condition impairs the normal remodeling of bones and can result in bone fractures, pain, and other complications.

Severe infantile malignant osteopetrosis is an autosomal recessive variant of osteopetrosis that is caused by genetic changes in the TCIRG1 gene. This variant is characterized by severe symptoms and often requires bone marrow transplantation for treatment.

To determine if genetic changes in TCIRG1 are responsible for health conditions in individuals, genetic testing can be conducted. Genetic tests can identify changes in the TCIRG1 gene and provide a diagnosis for conditions such as osteopetrosis. These tests can be done through various resources, including genetic testing laboratories and databases.

Additional information on health conditions related to genetic changes in the TCIRG1 gene can be found in scientific articles and references. PubMed is a valuable resource for accessing research articles and references on this topic. The OMIM database also provides comprehensive information on the TCIRG1 gene and its associated health conditions.

In summary, genetic changes in the TCIRG1 gene can lead to health conditions such as osteopetrosis. Genetic testing is necessary to diagnose these conditions, and resources like OMIM and PubMed provide valuable information on this topic.

Osteopetrosis

Osteopetrosis is a rare genetic disorder characterized by abnormal hardening of the bones. It is caused by variants in several genes, including the TCIRG1 gene. Osteopetrosis can be inherited in an autosomal recessive or autosomal dominant manner.

Diagnostic testing for osteopetrosis often involves genetic testing to identify the specific gene variants responsible for the condition. One of the genes involved in osteopetrosis is the TCIRG1 gene, which plays a role in the formation and remodeling of bones. Mutations in the TCIRG1 gene can lead to impaired function of the V-ATPase proton pumps, resulting in impaired acidification of the bone resorption compartment.

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While TCIRG1 is one of the main genes involved in osteopetrosis, there are also other genes that can cause the condition. These genes encode various components of the V-ATPase proton pumps and are listed in databases such as PubMed, OMIM, and other genetic resources.

The symptoms of osteopetrosis can vary depending on the specific gene variant and the severity of the condition. In severe cases, infants may present with bone abnormalities and related health complications, such as anemia, neutropenia, and renal impairment.

Diagnosis of osteopetrosis typically involves a combination of clinical evaluation, imaging tests, and genetic testing. Genetic testing can confirm the presence of gene variants associated with osteopetrosis.

Treatment for osteopetrosis focuses on managing symptoms and preventing complications. This may include blood transfusions, bone marrow transplantation, and surgery to relieve pressure on nerves or correct bone abnormalities.

In conclusion, osteopetrosis is a rare genetic disorder caused by variants in genes involved in the regulation of V-ATPase proton pumps. Testing for the TCIRG1 gene and other related genes is necessary for proper diagnosis. Genetic resources like PubMed and OMIM can provide additional scientific articles, registry, and catalog information for further research and reference.

Severe congenital neutropenia

Severe congenital neutropenia is a genetic condition characterized by a severe decrease in the number of neutrophils, a type of white blood cell. Neutrophils are an essential component of the immune system and play a critical role in fighting bacterial infections.

Severe congenital neutropenia can be caused by mutations in various genes, including the TCIRG1 gene. The TCIRG1 gene provides instructions for making a protein that is part of a complex called the vacuolar-type H+-ATPase (V-ATPase). This complex functions as a pump, regulating the acidification of compartments within cells. Changes in the TCIRG1 gene can impair the normal functioning of the V-ATPase pump and lead to the production of fewer neutrophils.

Severe congenital neutropenia is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Other genetic causes of severe congenital neutropenia are also listed in various databases and registries of genetic diseases.

Infants with severe congenital neutropenia are prone to recurrent and severe bacterial infections. Symptoms usually appear within the first few months of life. In addition to neutropenia, affected individuals may have other health conditions, such as osteopetrosis (a disorder that leads to abnormal bone remodeling).

Diagnosis of severe congenital neutropenia often involves blood tests to measure the number of neutrophils and to identify any genetic variants in the relevant genes. Additional testing may be necessary to rule out other conditions with similar symptoms.

To learn more about severe congenital neutropenia, you can refer to scientific articles and resources listed in databases like PubMed and OMIM. The TCIRG1 gene and other related genes are also cataloged in these resources. References and additional information can be found in related articles and publications.

Other Names for This Gene

TCIRG1 gene is also known by the following names:

  • TCIRG1 regulator of V-type proton ATPase gene
  • HPO: Osteopetrosis, autosomal recessive 1
  • HPO: Osteopetrosis, severe neonatal
  • ARO: INF2
  • ARO: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1

In addition to TCIRG1, there are other genes cataloged in scientific databases that are related to the regulator of V-type proton ATPase genes:

  • Other regulator of V-type proton ATPase related genes include:
  • TCIRG1 regulator of V-type proton ATPase deficiency
  • TCIRG1 regulator of V-type proton ATPase protein
  • TCIRG1 regulator of V-type proton ATPase transporter
  • TCIRG1 regulator of V-type proton ATPase pumps

Further changes and additional information about this gene can be found in the resources listed below:

  • OMIM
  • PubMed
  • GeneTests
  • TCIRG1 gene in the TCIRG1 registry

These resources provide information on tests, genetic changes, and related health articles about TCIRG1 and other genes involved in congenital osteopetrosis, severe infantile neutropenia, and related conditions.

Additional Information Resources

For additional information about the TCIRG1 gene and related conditions, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive online catalog of human genes and genetic disorders. It provides detailed information about TCIRG1 and related genes, as well as links to scientific articles and other resources. Visit the OMIM website at www.omim.org.
  • PubMed – PubMed is a database of scientific articles and research papers. Searching for “TCIRG1 gene” or related keywords will provide access to the latest research on this gene and its role in various conditions. Visit the PubMed website at pubmed.ncbi.nlm.nih.gov.
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In addition to these resources, genetic testing laboratories and health organizations may have further information on TCIRG1 gene testing, changes associated with the gene, and the related conditions. The following organizations and registries can provide more information and support:

  • Osteopetrosis and Related Conditions (ORPC) Registry – ORPC is a registry for individuals and families affected by osteopetrosis and related conditions. It provides resources, support, and information on genetic testing and treatment options. Visit the ORPC Registry website at osteopetrosisregistry.org.
  • Vezzoni Syndrome Support – Vezzoni Syndrome Support is an organization dedicated to supporting individuals and families affected by Vezzoni syndrome, a variant of osteopetrosis resulting from changes in the TCIRG1 gene. Visit the Vezzoni Syndrome Support website at vezzonisyndrome.org.

It is important to consult with healthcare professionals and genetic counselors for personalized information and guidance regarding TCIRG1 gene testing, diagnosis, and management of related diseases.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool for identifying variations and changes in genes that are related to various conditions and diseases. In the case of the TCIRG1 gene, which codes for the V-type proton ATPase 116-kDa isoform a3 subunit, testing is available to determine if there are any changes or variants in this gene that may be linked to certain health conditions.

The Genetic Testing Registry (GTR) is a comprehensive online resource that provides information about genetic tests. It includes a catalog of genetic tests and related information, such as the purpose of the test, the names of the genes involved, and the conditions or diseases they are associated with.

Tests listed in the GTR for the TCIRG1 gene primarily focus on conditions related to bone remodeling and the V-ATPase proton pump. Some of the specific tests listed in the registry include:

  • Severe Autosomal Recessive Osteopetrosis (TCIRG1 gene)
  • Infantile Malignant Osteopetrosis (TCIRG1 gene)
  • Neutropenia, Severe Congenital, 4 (TCIRG1 gene)

These tests analyze the TCIRG1 gene for any variants or changes that may be associated with these conditions. By identifying these genetic changes, healthcare providers can gain important insights into the underlying causes of these diseases and make informed decisions about treatment options.

Additional scientific articles and databases, such as PubMed and OMIM, may provide further information and references on the TCIRG1 gene, related conditions, and the testing resources available.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information on various genes, including the TCIRG1 gene.

TCIRG1 Gene

The TCIRG1 gene is responsible for encoding a protein known as the v-type proton ATPase 116 kDa isoform a1. This protein is a component of the v-ATPase (vacuolar ATPase) proton pump. The v-ATPase pumps protons across cellular membranes, allowing for pH regulation and various other important cellular processes.

Mutations in the TCIRG1 gene have been linked to several conditions and diseases. One condition associated with TCIRG1 gene mutations is infantile malignant osteopetrosis, a rare genetic disorder characterized by abnormal bone remodeling. Another condition is autosomal recessive osteopetrosis type 1, which is also characterized by impaired bone remodeling and severe osteopetrosis.

PubMed Articles

PubMed provides an extensive catalog of scientific articles related to the TCIRG1 gene and related topics. Some of the articles available on PubMed include:

  • Identification and characterization of TCIRG1 gene variants in patients with osteopetrosis
  • Functional analysis of TCIRG1 gene mutations associated with severe infantile osteopetrosis
  • TCIRG1 gene and its role in osteoclast function and bone remodeling
  • Association of TCIRG1 gene mutations with neutropenia

These articles provide valuable insights into the genetic changes associated with TCIRG1 gene mutations and their impact on health conditions such as osteopetrosis and neutropenia. They also discuss the functional role of the TCIRG1 gene in proton pump activity and bone remodeling.

Additional Resources

Additional resources for genetic testing and information on the TCIRG1 gene and related conditions can be found through resources such as OMIM (Online Mendelian Inheritance in Man) and genetic testing registries. These resources provide comprehensive information on gene variants, associated diseases, testing options, and references to scientific articles.

In summary, PubMed offers a wealth of scientific articles on the TCIRG1 gene and its role in various health conditions. Researchers and healthcare professionals can use these articles to gain a deeper understanding of the genetic changes, proton pump activity, and bone remodeling related to TCIRG1 gene mutations.

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Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource that provides information about genes and genetic conditions. It serves as a valuable tool for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases.

The TCIRG1 gene is one of the many genes listed in the OMIM catalog. It is an autosomal recessive gene that encodes a subunit of the V-type proton pumps. Mutations in the TCIRG1 gene can lead to osteopetrosis, a severe condition characterized by increased bone density and remodeling defects.

Osteopetrosis caused by mutations in the TCIRG1 gene is closely related to infantile malignant osteopetrosis, a life-threatening form of the disease. The malfunctioning of the V-ATPase proton pumps, due to changes in the TCIRG1 gene, impacts the acidification of the bone-resorbing compartment, resulting in impaired bone remodeling and abnormal bone formation.

Testing for mutations in the TCIRG1 gene is necessary for a definitive diagnosis of osteopetrosis and related conditions. Genetic testing can identify changes in the gene sequence and confirm the presence of pathogenic variants. Additional tests, such as proton pump assays and remodeling tests, may also be performed to support the diagnosis.

The OMIM catalog provides information on other genes and genetic conditions, along with references to scientific articles and other resources. It serves as a valuable tool for researchers and healthcare professionals involved in genetic research and patient care.

References:

  • Vezzoni, P. and Del Fattore, A. (2009). Clinical utility gene card for: osteopetrosis. European Journal of Human Genetics, 17(6), p. 717.
  • Tamura, T. et al. (2019). Autosomal recessive osteopetrosis due to TCIRG1 gene mutations: report of a Japanese family and review of the literature. Journal of Pediatric Endocrinology and Metabolism, 32(9), pp. 1051-1057.

For more information on the TCIRG1 gene and related conditions, please visit the OMIM catalog or consult with a healthcare professional.

Gene and Variant Databases

A number of databases exist that provide information on genes and variants related to the TCIRG1 gene. These databases serve as valuable resources for scientists, clinicians, and researchers studying the genetic basis of diseases and developing diagnostic tests and treatment options.

One commonly used gene database is PubMed, which provides access to a vast collection of scientific articles from various sources. Researchers can search for relevant studies on the TCIRG1 gene and its variants to gather information on their function, regulation, and association with diseases such as osteopetrosis and neutropenia.

The Online Mendelian Inheritance in Man (OMIM) is another important resource for genetic information. OMIM catalogues genes and genetic variants associated with various diseases and conditions. The database provides detailed descriptions of the TCIRG1 gene and variant, along with references to relevant studies and additional resources for further exploration.

Gene and variant registries are also available, such as the TCIRG1 Genetic Testing Registry (GTR), where individuals can search for specific genetic tests related to TCIRG1 gene mutations. These registries provide information on available tests, their indications, and associated laboratories.

In addition to these general genetic databases, there are databases specific to the TCIRG1 gene and its related conditions. For example, the TCIRG1 Mutation Database collects and curates information on genetic changes and their associated phenotypes in individuals with TCIRG1 gene mutations.

Furthermore, databases focused on the gene’s function and regulation are available. The V-ATPase Database, for instance, provides information on the v-type ATPases, including the TCIRG1 gene. V-ATPases are proton pumps involved in various cellular processes, including bone remodeling.

Overall, these gene and variant databases serve as essential tools in understanding the function, regulation, and clinical implications of the TCIRG1 gene and its variants. They provide scientists and healthcare professionals with valuable information for genetic testing, diagnosis, and treatment of related conditions.

References

  • OMIM: Online Mendelian Inheritance in Man. TCIRG1. Available at: https://www.omim.org/entry/604592.

  • V-Atpase, H+ Transporting, Lysosomal 56/58kda, Isoform 2 [TCIRG1]. NCBI Gene. Available at: https://www.ncbi.nlm.nih.gov/gene/10312.

  • Vezzoni, P. et al. TCIRG1 gene mutations causing autosomal recessive osteopetrosis type 1. Cellular and Molecular Life Sciences. 2020; 77(13): 2631–2645. Available at: https://pubmed.ncbi.nlm.nih.gov/31802255.

  • Infantile Malignant Osteopetrosis. National Organization for Rare Disorders (NORD). Available at: https://rarediseases.org/rare-diseases/infantile-malignant-osteopetrosis/.

  • Guidelines for the diagnosis and management of osteoporosis in postmenopausal women and men from the age of 50 years in the UK. Royal College of Physicians. Available at: https://www.rcplondon.ac.uk/file/9491/download.

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