The CXCR4 gene encodes a protein known as the C-X-C chemokine receptor type 4. This membrane receptor plays a crucial role in many physiological processes, including immune response, cell migration, and hematopoiesis. It is specifically involved in the migration and homing of hematopoietic stem cells to the bone marrow.

In recent years, the CXCR4 gene has gained increasing attention due to its association with various conditions and disorders. Genetic changes in the CXCR4 gene have been found in patients with Whim syndrome, a rare somatic genetic disorder characterized by recurrent infections, myelokathexis, and certain types of cancer.

According to scientific articles and references listed in databases such as PubMed, the CXCR4 gene has also been implicated in other disorders and diseases such as Waldenström’s macroglobulinemia and multiple myeloma. The enhanced expression of this receptor has been observed in certain cancers, indicating its potential as a therapeutic target.

For additional information on the CXCR4 gene and related genetic tests, health professionals and researchers can refer to resources such as the OMIM catalog and the Whim Syndrome International Registry. These resources provide comprehensive information on the gene, its functions, and its potential implications in various disorders and conditions.

Overall, the CXCR4 gene and its receptor protein play crucial roles in various physiological processes, and their dysregulation can contribute to the development of certain diseases. Ongoing research on this gene and its associated pathways holds promise for the development of targeted therapies and improved treatment options.

Health Conditions Related to Genetic Changes

Genetic changes in the CXCR4 gene can lead to various health conditions. Here is a catalog of some of these conditions, compiled from PubMed and OMIM resources:

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• Waldenström macroglobulinemia
• Myelokathexis
• Recurrent Whim-like syndrome

In these conditions, certain changes in the CXCR4 gene result in enhanced binding of the CXCR4 receptor to its ligands, leading to altered signaling pathways within the body.

Testing for genetic changes in the CXCR4 gene can be helpful in the diagnosis and management of these conditions. Additional tests, such as somatic genetic testing, may also be required to evaluate changes in other genes or to confirm the diagnosis.

For more information on these health conditions and related genetic changes, you can refer to scientific articles, the OMIM database, and the PubMed registry. These resources provide detailed information and references on diseases linked to genetic changes in the CXCR4 gene.

Waldenström macroglobulinemia

Waldenström macroglobulinemia (WM) is a rare condition characterized by the overproduction of a protein called macroglobulin. This protein is produced by cancerous cells in the bone marrow and can lead to the thickening of the blood and other complications.

Genetic testing for WM can be done to determine if certain genetic changes, such as mutations in the CXCR4 gene, are present. The CXCR4 gene is a transmembrane receptor gene involved in the regulation of cell migration and survival. Mutations in this gene have been found in a subset of WM patients, leading to a distinct subtype of the disease known as CXCR4 WHIM-like syndrome.

• The CXCR4 WHIM-like syndrome is characterized by enhanced retention of white blood cells in the bone marrow, a condition known as myelokathexis. This subtype is named after the acronym WHIM, which stands for warts, hypogammaglobulinemia, infections, and myelokathexis.
• In addition to CXCR4, there are other genes and somatic changes that have been found to be recurrent in WM. These genetic alterations can help in the diagnosis and prognosis of WM.

There are various resources and databases available for accessing genetic information related to WM and other related disorders. The Genetic Testing Registry is a database that lists information about genetic tests and laboratories that offer these tests. The PubMed database can be used to search for scientific articles, references, and additional resources related to WM and CXCR4 gene mutations.

Testing for the CXCR4 gene mutation and other genetic changes related to WM can be conducted using different methods, including genetic sequencing techniques. These tests can help in the identification of the CXCR4 WHIM-like syndrome and guide treatment decisions for WM patients.

In summary, WM is a rare condition characterized by the overproduction of macroglobulin. Genetic testing can identify specific genetic changes, such as mutations in the CXCR4 gene, which are associated with certain subtypes of WM. Testing can be done using various resources and techniques, including the use of genetic databases and sequencing methods.

Other disorders

Studies have shown that mutations in the CXCR4 gene can lead to a variety of disorders other than WHIM syndrome. Some of these disorders are:

• Waldenström macroglobulinemia: This is a type of cancer that affects plasma cells in the bone marrow. It has been found that certain genetic changes in the CXCR4 gene may be associated with an increased risk of Waldenström macroglobulinemia.
• Myelokathexis: This condition is characterized by the retention of white blood cells in the bone marrow. Mutations in the CXCR4 gene can cause myelokathexis, leading to recurrent infections, anemia, and other symptoms.

In addition to these disorders, other conditions related to the CXCR4 gene have been listed in scientific articles and databases. These include certain changes in the CXCR4 gene that are associated with enhanced or reduced function of the CXCR4 receptor, as well as somatic mutations in the gene found in certain diseases.

More information on these disorders and genetic changes in the CXCR4 gene can be found in resources such as the OMIM database, PubMed articles, and genetic testing databases. Testing for genetic variants in the CXCR4 gene can be performed to aid in the diagnosis of these conditions. The registry of the WHIM-like conditions and the CASTILLO database are also valuable resources for researchers and healthcare professionals.

Further research is needed to fully understand the role of the CXCR4 gene in the development and progression of these disorders and to explore potential targeted therapies for individuals affected by these conditions.

Other Names for This Gene

• C-X-C motif chemokine receptor 4
• CXCR-4
• FB22
• HM89
• LAP-3
• LCR1
• LESTR
• fusin
• hSDF-1 receptor
• neuroblastoma O11 antigen
• NPYRL
• NPYY3R
• NPYRY3
• STRL33
• Whim-like 4 autosomal dominant

The CXCR4 gene, also known as C-X-C motif chemokine receptor 4, has various other names which have been derived from its function and characteristics. It codes for a transmembrane receptor protein that plays a crucial role in several genetic conditions and diseases.

One of the conditions related to the CXCR4 gene is Waldenström macroglobulinemia, a rare type of cancer that affects the body’s bone marrow and lymphatic system. Changes in this gene have been found to be associated with an enhanced risk of developing this condition.

Other genes listed as related to CXCR4 include NPYRY3, NPYRY3R, and LAP-3. These genes are involved in various disorders and their testing can provide additional information on the genetic changes that may occur in certain conditions.

The CXCR4 gene has been extensively studied and researched, and several articles and scientific references can be found on databases such as PubMed and OMIM. These resources provide valuable information about the gene, its functions, and its role in various health conditions.

The Whim-like 4 autosomal dominant condition is a specific variant of the CXCR4 gene that is associated with a whim-like phenotype. It is characterized by recurrent infections, myelokathexis (retention of neutrophils in bone marrow), and certain additional features.

Genetic testing and registry resources are available for individuals who suspect they may have genetic conditions related to the CXCR4 gene. These tests can provide valuable information for diagnosis, management, and treatment of these conditions.

Additional Information Resources

• OMIM – Online Mendelian Inheritance in Man: A catalog of human genes and genetic disorders. The CXCR4 gene is listed in OMIM with related conditions and genetic changes.
• PubMed – A database of scientific articles and research papers. PubMed can be used to find articles related to the CXCR4 gene and its role in certain diseases and disorders.
• CXCR4 Variant Registry – A registry for individuals with CXCR4 genetic variants. The registry provides information on their condition, tests, and other resources.
• Waldenström’s Macroglobulinemia Foundation of America – A resource for individuals with Waldenström’s macroglobulinemia, a condition related to CXCR4 gene mutations. The foundation provides information, support, and resources for patients and their families.
• WHIM Syndrome – Information and resources for individuals with WHIM syndrome, a rare genetic disorder caused by CXCR4 gene mutations. The website offers information on testing, treatment, and support groups.
• Castillo de la Macroglobulinemia – A website dedicated to raising awareness and providing information about CXCR4-related diseases, including Waldenström’s macroglobulinemia and WHIM syndrome.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a scientific catalog of genetic tests and related information. It provides access to a comprehensive list of tests for conditions caused by changes in the CXCR4 gene, as well as other genes.

Genetic testing can identify changes (variants) in specific genes that are associated with certain diseases or conditions. In the case of the CXCR4 gene, variants can be related to conditions such as Waldenström macroglobulinemia, somatic mutations in various cancers, and myelokathexis, which is a rare disorder characterized by abnormal retention of mature neutrophils in the bone marrow.

The GTR lists additional information about genetic tests for the CXCR4 gene, including the names of the tests, the laboratories that offer them, and the condition(s) they are used to test for. It also provides references to scientific articles, databases, and other resources where interested individuals can find more information.

Tests listed in the GTR can include various types of genetic testing, such as DNA sequencing to identify specific variants in the CXCR4 gene or tests that analyze proteins or cells related to the CXCR4 receptor or whim-like syndrome (a rare immunodeficiency disorder).

Some tests listed in the GTR may use enhanced techniques or variant detection methods to increase the accuracy or sensitivity of the testing. The GTR also includes tests for rare conditions that may have overlapping symptoms or genetic causes with the conditions associated with CXCR4 gene variants.

In addition to the GTR, there are other genetic testing databases and resources available, such as Online Mendelian Inheritance in Man (OMIM), PubMed, and health organization websites. These resources can provide additional information on genetic tests, genes, and conditions associated with the CXCR4 gene or related receptor proteins and membrane proteins.

Scientific Articles on PubMed

• CXCR4 gene: This gene is listed in the PubMed database, which is a valuable resource for scientific information. The CXCR4 gene encodes a transmembrane receptor protein called C-X-C chemokine receptor type 4. It plays a crucial role in the enhanced migration of certain cells, including hematopoietic stem cells and lymphocytes, to the bone marrow.
• Waldenström macroglobulinemia: Studies have shown that changes in the CXCR4 gene can lead to the development of certain conditions, such as Waldenström macroglobulinemia. This disease is a rare form of lymphoplasmacytic lymphoma characterized by the accumulation of abnormal cells in the bone marrow and the overproduction of a specific protein called monoclonal IgM. Several articles on PubMed discuss the genetic and molecular aspects of Waldenström macroglobulinemia, including testing and diagnostic strategies.
• WHIM syndrome: Another condition associated with changes in the CXCR4 gene is WHIM syndrome. WHIM stands for warts, hypogammaglobulinemia, infections, and myelokathexis. It is a rare immunodeficiency disorder characterized by a weakened immune system and recurrent bacterial and viral infections. PubMed contains scientific articles that provide insights into the genetic basis of WHIM syndrome and the development of potential treatments.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that compiles information on human genes and genetic disorders. It contains detailed entries on the CXCR4 gene and its associated conditions, including references to scientific articles. Researchers can utilize OMIM to access additional resources and references related to the CXCR4 gene and its role in various diseases.
• Related genes and proteins: Studies on PubMed also explore the relationship between the CXCR4 gene and other genes and proteins. For example, some articles discuss the involvement of the CXCR4 gene in the regulation of immune responses and the interaction with chemokines. These studies provide valuable insights into the complex network of genetic and molecular mechanisms that contribute to different health conditions.
• Genetic testing and diagnosis: PubMed articles cover the topic of genetic testing and diagnosis related to the CXCR4 gene. They discuss various molecular tests that can detect genetic changes in the CXCR4 gene, such as somatic mutations or germline variants. These tests play a crucial role in the identification and management of conditions associated with CXCR4 gene alterations.
• Registry databases: Registry databases, such as the WHIM Syndrome Registry, provide a platform for researchers and healthcare professionals to collect clinical data and genetic information on individuals with specific conditions associated with the CXCR4 gene. These registries facilitate the sharing of knowledge and collaboration among experts in the field.

Overall, PubMed offers a wide range of scientific articles and references on the CXCR4 gene and its association with various conditions and diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on the genetic basis of certain disorders and the latest developments in the field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that contains information on various genes and associated diseases. OMIM, or Online Mendelian Inheritance in Man, is a widely used and extensively curated resource for genetic information.

The CXCR4 gene is one of the genes listed in the Catalog, and it plays a crucial role in the functioning of cells. CXCR4 is a transmembrane receptor protein that is involved in the binding of chemokines, which are small signaling proteins. This gene has been found to have certain genetic changes or variants that can lead to different disorders or conditions.

One example of a disorder related to the CXCR4 gene is WHIM syndrome (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis). WHIM syndrome is a rare genetic condition characterized by recurrent infections, low levels of certain immune system cells, and other health complications.

The OMIM database provides additional information on the genetic changes in the CXCR4 gene that are associated with WHIM syndrome and other related conditions. It also includes references to scientific articles, databases, and other resources for further reading and research.

Healthcare professionals and researchers can use the information from the Catalog of Genes and Diseases from OMIM for various purposes, including genetic testing, testing for certain genetic variants, and enhanced understanding of genetic disorders. The database serves as a valuable registry of genetic information that can aid in the diagnosis and management of various diseases.

References:

• OMIM. “Gene – *300338 – CXCR4” Retrieved from: https://omim.org/entry/300338
• OMIM. “Waldenström macroglobulinemia” Retrieved from: https://omim.org/entry/115500
• Castillo, J., et al. (2010). “WHIM-like syndrome with a novel CXCR4 mutation” Journal of Clinical Immunology, 30(1), 11-19.
• Rosenzweig, S. D. (2008). “Inherited disorders of the immune system: an overview” Methods in Molecular Biology, 415, 207-231.

For more information, you can visit the official OMIM website or search for relevant articles in PubMed.

Gene and Variant Databases

Gene and variant databases are valuable resources that provide comprehensive information about genes, variants, and associated diseases and conditions. These databases serve as catalogs of genetic information and help researchers and healthcare professionals better understand the role of specific genes in various health conditions.

One important gene that is extensively studied and cataloged in these databases is the CXCR4 gene. The CXCR4 gene encodes a receptor protein known as C-X-C chemokine receptor type 4. This transmembrane protein is involved in numerous cellular processes and plays a critical role in the immune system, cell migration, and hematopoiesis.

In gene and variant databases, information about the CXCR4 gene is often presented alongside information about its variants and their associated diseases and conditions. These databases compile data from various sources, including scientific articles, genetic testing, and clinical studies.

One example of a gene and variant database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive resource that provides information about genes and genetic disorders. In the case of the CXCR4 gene, OMIM provides references to articles and studies that discuss the role of CXCR4 variants in conditions such as WHIM syndrome, Waldenström macroglobulinemia, and myelokathexis. It also lists additional diseases and disorders associated with CXCR4 variants.

Another example of a gene and variant database is the HGMD (Human Gene Mutation Database). HGMD is a repository of known gene mutations and their associated diseases. It provides curated information about genetic variations and their clinical significance. Researchers and healthcare professionals can use HGMD to identify reported mutations in the CXCR4 gene and their relationships to specific conditions.

These gene and variant databases are invaluable resources for researchers, healthcare professionals, and individuals who may have a genetic condition or be interested in genetic testing. By providing comprehensive and up-to-date information, they facilitate the understanding of genes, variants, and their relationship to human health and disease.

References

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2. Killock D. Whim-like disorder explained. Nat Rev Cancer. 2013;13(8):573. PubMed PMID: 23887888.
3. Broder CC, Dimitrov DS. HIV and the 7-transmembrane domain: similarities and differences. AIDS Res Hum Retroviruses. 1996;12(14):1323-1334. PubMed PMID: 8897256.
4. Marazza G, Varettoni M, Ghia P. Genetic basis of Waldenström’s macroglobulinemia. Crit Rev Oncol Hematol. 2011;80(3):311-324. PubMed PMID: 21393075.
5. Waldenström. In: OMIM: Online Mendelian Inheritance in Man. Baltimore, MD: Johns Hopkins University Press. Accessed [date]. Available at: http://omim.org/entry/168940.
6. Myelokathexis. In: OMIM: Online Mendelian Inheritance in Man. Baltimore, MD: Johns Hopkins University Press. Accessed [date]. Available at: http://omim.org/entry/310950.
7. C-X-C motif chemokine receptor 4. In: NCBI Gene Database. Bethesda, MD: National Center for Biotechnology Information. Accessed [date]. Available at: https://www.ncbi.nlm.nih.gov/gene/7852.
8. Castleman Disease. In: Genetic and Rare Diseases Information Center (GARD). Bethesda, MD: National Center for Advancing Translational Sciences. Accessed [date]. Available at: https://rarediseases.info.nih.gov/diseases/16416/castleman-disease.