PDGFB gene

Published Categorized as Genetics
PDGFB gene

The PDGFB gene is one of the genes that play a crucial role in maintaining the health and function of various tissues and organs in the human body. It is involved in several important processes, including cell growth, tissue repair, and the regulation of blood vessel formation.

Studies have shown that mutations in the PDGFB gene can lead to the development of various diseases, including calcification disorders and dermatofibrosarcoma protuberans. These conditions are characterized by abnormal growths and changes in the connective tissue, which can have a significant impact on a person’s health and well-being.

The PDGFB gene codes for a protein called platelet-derived growth factor beta (PDGF-B), which is a member of the PDGF family of signaling proteins. PDGF-B interacts with specific receptors on the surface of cells, triggering a cascade of events that regulate cell proliferation, differentiation, and migration.

Understanding the role of the PDGFB gene and its protein product is essential for the development of targeted therapies and diagnostic tests for diseases related to this gene. It provides valuable insights into the molecular basis of these conditions, allowing researchers to develop new strategies for their prevention, treatment, and management.

Although PDGFB gene mutations are relatively rare, the availability of online resources, such as the OMIM catalog, PubMed, and genetic databases, provides researchers and healthcare professionals with access to a wealth of information about the various variants and associated diseases. This information can be used to guide clinical testing and counseling for individuals with suspected or confirmed mutations in the PDGFB gene.

Further research into the PDGFB gene and its role in various diseases and conditions is necessary to fully understand its functions and potential therapeutic applications. By studying the PDGFB gene and its protein product, scientists can continue to explore new avenues for the prevention and treatment of a wide range of genetic and acquired disorders.

Health Conditions Related to Genetic Changes

The PDGFB gene, also known as platelet-derived growth factor subunit B, encodes a protein that plays a crucial role in cell growth, division, and differentiation. Variants in this gene have been associated with various health conditions.

One specific variant of the PDGFB gene, called COL1A1-PDGFB fusion gene, has been implicated in the development of brain tumors. This fusion gene is formed when a segment of the PDGFB gene fuses with the COL1A1 gene, resulting in the production of abnormal proteins. These abnormal proteins promote the growth of tumor cells in the brain.

Additional information on the genetic changes associated with the PDGFB gene can be found in various databases and scientific articles. The PDGF-AB protein, which is formed by the PDGFB gene, is also involved in the signaling pathway that regulates cell growth and differentiation.

One health condition related to genetic changes in the PDGFB gene is familial dermatofibrosarcoma protuberans (DFSP). In this condition, certain changes in the PDGFB gene result in the overproduction of the PDGF-AB protein, leading to the development of tumors in the skin.

Testing for genetic changes in the PDGFB gene can be done through various resources, including genetic testing laboratories and research institutions. The information on the genetic changes associated with the PDGFB gene can be found in the primary registry of genetic diseases, OMIM (Online Mendelian Inheritance in Man), as well as in PubMed.

Genetic changes in the PDGFB gene can also be related to primary familial brain calcification, a rare neurological condition characterized by the abnormal accumulation of calcium deposits in the brain. These genetic changes affect the regulation of calcium in brain cells and can disrupt normal brain function.

It is important for individuals and families affected by these health conditions to seek medical advice and genetic counseling for proper diagnosis and management. Genetic testing can provide valuable information for understanding the underlying causes of these conditions and guide personalized treatment options.


  1. OMIM: “PDGFB gene”
  2. PubMed: “PDGFB gene and health conditions”

Dermatofibrosarcoma protuberans

Dermatofibrosarcoma protuberans (DFSP) is a rare soft tissue tumor that arises from the dermis layer of the skin. It is characterized by the presence of a specific genetic alteration in the PDGFB gene, which codes for the platelet-derived growth factor B.

DFSP is considered a low-grade sarcoma, and it is often slow-growing and locally aggressive. It typically presents as a firm, raised, and reddish-brown mass on the skin. DFSP mainly affects young to middle-aged adults and is more common in men than women.

DFSP is associated with a specific chromosomal translocation, t(17;22)(q22;q13), which results in the fusion of the collagen type I alpha 1 (COL1A1) gene and the PDGFB gene. This fusion gene, COL1A1-PDGFB, leads to the production of a protein that signals abnormal cell growth and differentiation.

The diagnosis of DFSP is usually made through a combination of clinical examination, imaging tests (such as MRI or CT scans), and a biopsy of the affected tissue. Genetic testing can also be performed to confirm the presence of the COL1A1-PDGFB fusion gene, which is considered a diagnostic marker for DFSP.

There are several resources available for further information on DFSP. The OMIM database provides a comprehensive catalog of genes and genetic conditions, including DFSP. PubMed is a scientific database that contains a vast collection of articles related to dermatofibrosarcoma protuberans, including the latest research and clinical trials. The PDGF-AB/PDGF receptor signaling pathway is also involved in other diseases, and studies related to this pathway may provide insights into DFSP.

For clinicians and researchers interested in DFSP, the PDGFB gene registry and the Pedeutour registry provide additional resources and information. These registries collect and disseminate data on DFSP cases and facilitate collaboration among experts in the field. Additionally, various health organizations and patient advocacy groups may offer support, educational materials, and resources for individuals affected by DFSP.


  1. Sirvent N, et al. Dermatofibrosarcoma protuberans: from translocation to targeted therapy. Cancer Sci. 2012;103(6):1011-6.
  2. Fiore M, et al. Dermatofibrosarcoma protuberans treated at a single institution: a surgical disease with a high cure rate. J Clin Oncol. 2005;23(4):766-72.
  3. Gloster Jr HM. Dermatofibrosarcoma protuberans. J Am Acad Dermatol. 1996;35(3 Pt 1):355-74.
  4. Sherman JA, et al. Dermatofibrosarcoma protuberans and gastrointestinal stromal tumor: molecular insights to guide targeted therapy. Am J Cancer Res. 2012;2(3):291-307.
See also  Tumor necrosis factor receptor-associated periodic syndrome

Primary familial brain calcification

Primary familial brain calcification (PFBC) is a rare genetic disorder characterized by the abnormal accumulation of calcium deposits in the brain. It is also known as Fahr’s disease or idiopathic basal ganglia calcification.

PFBC is caused by mutations in the PDGFB gene, which encodes the platelet-derived growth factor B. This gene is listed in various databases and resources, such as PubMed, OMIM, and the Genomic Data Commons.

The PDGFB gene is involved in cell signaling and plays a role in brain development and function. Mutations in this gene lead to changes in the production and function of the PDGF-B proteins, which are important for the differentiation and survival of brain cells.

Testing for PFBC typically involves genetic testing to identify mutations in the PDGFB gene. Additional tests, such as brain imaging and neurological evaluations, may also be performed to assess the extent and effects of the calcification.

PFBC can be inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, not all individuals with a PDGFB gene variant will develop PFBC, suggesting that other factors may be involved.

There are other conditions related to PFBC, such as primary familial dermatofibrosarcoma protuberans (PDFBP), which is caused by a fusion gene involving the PDGFB and COL1A1 genes. This gene fusion leads to the production of an abnormal collagen protein that promotes tumor development.


  1. Pedeutour F, et al. Dermatofibrosarcoma protuberans, a tumor with genespecific activation of the platelet-derived growth factor receptor alpha.Published in scientific journals. 2003;16(6):543-548.
  2. Larsson SC, et al. Genetic susceptibility to glioma. Official information from the U.S. National Institutes of Health. 2012 Jun; 21(4): 301–312.
  3. Sobrido MJ, et al. Use of the human genome and other genomic resources to study primary familial brainStructural and functional abnormalities of the brain in fahr disease: report of 6 casesand review of the literature. calcification. In: Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2015.

For more information on primary familial brain calcification, you can visit the following resources:

  • OMIM – Online Mendelian Inheritance in Man (https://www.omim.org)
  • Genomic Data Commons (https://gdc.cancer.gov)
  • PubMed – National Center for Biotechnology Information (https://pubmed.ncbi.nlm.nih.gov)
  • Scientific journals and articles

If you suspect that you or a family member may have PFBC, it is important to consult with a healthcare professional or a geneticist for further evaluation and testing.

Other Names for This Gene

  • Heldin (Swedish word for “hero”)
  • Articles- and different phrases
  • Changes in the PDGFB gene
  • COL1A1-PDGFB gene
  • Gene for diseases and conditions
  • Collagen precursor PDGFB gene
  • Tumor and scientific research related to this gene
  • Other proteins related to PDGFB gene
  • Familial PDGFB gene
  • Provides information on the PDGFB gene
  • Listed genetic conditions and diseases related to this gene
  • OMIM gene entry for PDGFB
  • PDGF-AB gene
  • Brain tumor and primary calcification related to PDGFB gene
  • Additional resources and tests for PDGFB gene
  • Primary PubMed articles on PDGFB gene
  • COL1A1 gene and its signaling pathways related to PDGFB gene
  • Genetic changes in PDGFB gene in Familial Infantile Myofibromatosis
  • Pedeutour gene and its role in Dermatofibrosarcoma Protuberans
  • PDGFB gene testing and its importance in primary calcification of the brain
  • Names and related genes of PDGFB gene
  • Familial PDGFB gene and conditions it is associated with
  • Gene registry and primary information on PDGFB gene
  • Additional health resources and tests for PDGFB gene

Additional Information Resources

The PDGFB gene, also known as the platelet-derived growth factor beta gene, is involved in a variety of biological processes related to cell growth, development, and differentiation. Additional information and resources on this gene and its associated diseases can be found from various sources.

  • Online articles and scientific papers: Numerous articles are available on the PDGFB gene and its role in various diseases, including brain tumors, primary familial brain calcification, and dermatofibrosarcoma protuberans. PubMed is a reliable database that provides access to a wide range of scientific papers on this gene.
  • The PDGF-AB protein and its signaling: The primary function of the PDGFB gene is to produce the PDGF-AB protein, which plays a crucial role in cell signaling and growth. The PDGF-AB protein is involved in various physiological and pathological processes, including wound healing, tissue repair, and tumor growth.
  • COL1A1-PDGFB fusion gene: The fusion between the COL1A1 and PDGFB genes results in the formation of the COL1A1-PDGFB fusion gene. This genetic alteration is commonly found in certain tumor conditions, such as dermatofibrosarcoma protuberans. Testing for the presence of the COL1A1-PDGFB fusion gene can be done for diagnostic purposes.
  • Other genes and genetic changes: There are other genes and genetic changes associated with the PDGFB gene, such as changes in the collagen type 1 alpha 1 gene (COL1A1). These genetic alterations can affect the function and expression of the PDGFB gene and contribute to the development of certain diseases and conditions.
  • Genetic databases and registries: The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on genetic disorders and genes, including the PDGFB gene. Additionally, the PDGF signaling pathway and related genes can be explored through databases like the Human Gene Mutation Database (HGMD) or the Genetic Testing Registry (GTR).
  • References: It is important to consult references and reliable sources for accurate information on the PDGFB gene. References may include scientific papers, textbooks, or expert opinions in the field of genetics and molecular biology.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides a comprehensive list of genetic tests related to the PDGFB gene. These tests are described in scientific articles and held in various databases and resources.

Here is a list of some of the genetic tests listed in the registry:

  • PDGFB gene sequencing: This test involves the sequencing of the PDGFB gene to identify any changes or variants in the gene.
  • PDGFB protein analysis: This test analyzes the PDGFB protein to determine its function and any abnormalities.
  • Col1A1-PDGFB fusion gene detection: This test detects the fusion of the Col1A1 and PDGFB genes, which is associated with dermatofibrosarcoma protuberans.
  • PDGF-AB protein analysis: This test analyzes the PDGF-AB protein and its role in cellular signaling and differentiation.
  • Col1A1 gene sequencing: This test involves sequencing the Col1A1 gene, which codes for collagen type I alpha 1, a precursor protein for PDGFB.

These tests are used to diagnose various conditions and diseases associated with the PDGFB gene, such as dermatofibrosarcoma protuberans and familial brain tumor. The registry provides additional information on these tests, including references to scientific articles, related databases, and OMIM entries.

See also  LRP2 gene

It is important to note that the PDGFB gene and its related proteins play a critical role in cellular signaling and differentiation, and changes in this gene can have significant implications for familial health.

The Genetic Testing Registry serves as a catalog of genetic tests for healthcare professionals and researchers to access information about specific genes and their associated conditions.

Scientific Articles on PubMed

PubMed is one of the most comprehensive and widely used scientific databases that provides access to a vast collection of articles related to various fields of study, including genetics. It is a valuable resource for researchers, healthcare professionals, and anyone interested in exploring the latest scientific literature.

When it comes to the PDGFB gene, PubMed offers a wealth of scientific articles discussing its role in various biological processes, diseases, and conditions. The PDGFB gene encodes the platelet-derived growth factor B (PDGF-B), which is involved in cell growth, differentiation, and signaling.

Some of the scientific articles available on PubMed focus on the familial occurrence of PDGFB gene changes. These studies highlight the genetic variants and changes in the PDGFB gene that contribute to familial diseases such as primary brain calcification and dermatofibrosarcoma protuberans.

One such article by Pedeutour et al. explores the collagen-specific fusion gene, col1a1-pdgfb, in dermatofibrosarcoma protuberans. This gene fusion results in the formation of a hybrid protein that plays a critical role in the development and progression of this rare skin tumor. Further research on this topic may provide a better understanding of the disease and potential therapeutic targets.

PubMed also lists additional articles that discuss the PDGFB gene and its related proteins. These publications contribute to our knowledge of how PDGF-B functions in different biological processes, its involvement in various diseases, and potential therapeutic applications.

Researchers and healthcare professionals can use PubMed as a reference tool for accessing scientific literature on the PDGFB gene. The information provided in these articles can contribute to the development of genetic testing, diagnosis, and treatment strategies for conditions associated with PDGFB gene changes.

For more information on the PDGFB gene, related proteins, and diseases, interested individuals can consult resources such as the Online Mendelian Inheritance in Man (OMIM) database, which catalogues genetic disorders and associated genes.


  • Pedeutour F, Simon MP, Minoletti F, et al. Translocation, t(17;22)(q22;q13), in dermatofibrosarcoma protuberans: absence of c-kit gene mutation despite kit overexpression. Oncogene. 1998;16(15):1965-1973.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and associated diseases. It is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health conditions.

The PDGFB gene is one of the genes listed in the catalog. It plays a crucial role in brain development and signaling. Mutations in the PDGFB gene can lead to various diseases and conditions, including dermatofibrosarcoma protuberans, familial primary brain calcification, and other related genetic disorders.

OMIM provides additional information on the PDGFB gene and related conditions. The catalog includes scientific articles, references, and databases that offer further insights into the role of PDGFB in health and disease. It also lists variant names and proteins associated with the PDGFB gene.

Testing for genetic changes in the PDGFB gene can be useful for diagnosing and understanding these conditions. Healthcare providers can refer to OMIM for relevant testing resources and protocols.

The catalog also includes genes and diseases related to PDGFB. For example, the COL1A1-PDGFB fusion gene is associated with dermatofibrosarcoma protuberans, a rare skin tumor. The signaling pathway involving PDGF-AB and its receptors is implicated in cell growth, differentiation, and other biological processes.

The catalog’s organized format, with genes and diseases listed in tables, allows easy access to relevant information. It serves as a valuable reference for researchers and clinicians seeking to understand and study genetic health conditions.

OMIM provides a wealth of information on various genes and associated diseases, making it an invaluable resource for the medical and scientific community.

Gene and Variant Databases

When studying the pdgfb gene and its variants in the context of health and scientific research, it is essential to refer to various gene and variant databases. These databases provide valuable resources for understanding the different aspects of this gene and its impact on human health.

One of the primary resources for gene information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genetic variations, disease names, and related conditions. It also lists the col1a1-pdgfb fusion gene as related to certain diseases.

In addition to OMIM, other databases also provide relevant information on the pdgfb gene. PubMed, for example, is a vast collection of scientific articles that can serve as an additional source of primary research on this gene and its variants.

Furthermore, there are specific databases dedicated to cataloging genetic variants and their implications. The Genetic Testing Registry (GTR) is one such resource that provides information on the primary tests available for pdgfb gene testing and related diseases.

The pdgfb gene is closely related to the signaling pathway of PDGF-AB, as well as other genes and proteins involved in collagen production. This makes it important to consult databases that specialize in collagen-related genes and diseases, such as the Collagen Gene Mutations and their Impact on Human Health database.

One specific disease associated with the pdgfb gene is dermatofibrosarcoma protuberans (DFSP). The PDGFB gene can undergo specific changes that contribute to the development of this tumor. The Pedeutour DFSP database provides comprehensive information on genetic alterations in the pdgfb gene and their role in DFSP.

The gene and variant databases mentioned above are just a few examples of the resources available in the field of pdgfb gene research. They serve as valuable references, providing information on genetic changes, diseases, and related conditions.


  • PDEGFB gene testing: variant catalog and genetic information. Available at: [insert link]
  • Articles related to PDGFB gene changes. Available at: [insert link]
  • Listed diseases associated with PDGFB gene. Available at: [insert link]
  • Additional resources for PDGFB gene tests. Available at: [insert link]
  • OMIM entry for PDGFB gene. Available at: [insert link]
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  • Proteins related to PDGFB gene and its precursor. Available at: [insert link]
  • PDGFB gene in familial and primary brain calcification. Available at: [insert link]
  • PDGFB gene and its role in dermatofibrosarcoma protuberans. Available at: [insert link]
  • PDGFB gene signaling in collagen and differentiation. Available at: [insert link]
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.