Meyahealth
HomeGeneticsGenePDGFRB gene
Back to Gene
PDGFRB gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PDGFRB gene

The PDGFRB gene provides instructions for a receptor protein that regulates cell growth and survival, with mutations linked to blood cancers, brain calcification, and various developmental disorders.

Normal Function

The PDGFRB gene provides instructions for making the platelet-derived growth factor receptor beta (PDGFRβ) protein. This protein belongs to the receptor tyrosine kinase family, which transmits signals from the cell surface into the cell via signal transduction.

When platelet-derived growth factor binds to PDGFRβ, it triggers phosphorylation—the activation of a series of proteins inside the cell. These signaling pathways are vital for regulating cell growth, division (proliferation), movement, and survival during the development of various tissues throughout the body.

Health Conditions Related to Genetic Changes

PDGFRB-associated chronic eosinophilic leukemia

Translocations involving the PDGFRB gene can cause a cancer of blood-forming cells. The most common is the ETV6-PDGFRB fusion gene. This fusion protein is constitutively activated, meaning it does not require ligand binding to signal. This leads to the uncontrolled growth of eosinophils and other white blood cells.

Primary familial brain calcification

Mutations in the PDGFRB gene can cause primary familial brain calcification, a condition characterized by abnormal calcium deposits in the brain. These mutations impair the protein's signaling ability, which may lead to excessive calcium entry into cells lining brain blood vessels or disrupt the regulation of phosphate and calcium levels in brain cells.

Other disorders

Additional PDGFRB mutations cause several distinct conditions, all involving increased cell signaling:

  • Infantile myofibromatosis: A muscle disorder causing multiple benign tumors in skin, muscles, or bones.
  • Kosaki overgrowth syndrome: Characterized by above-average height, large hands and feet, elastic skin, and intellectual disability.
  • Premature aging syndrome, Penttinen type: Characterized by lipoatrophy (lack of fatty tissue) and thin, wrinkled skin that makes individuals appear older than their biological age.

Other Names for This Gene

  • beta-type platelet-derived growth factor receptor
  • CD140 antigen-like family member B
  • CD140B
  • PDGF-R-beta
  • PDGFR-1
  • PDGFR-beta
  • PDGFR1
  • PGFRB_HUMAN
  • platelet-derived growth factor receptor 1
  • platelet-derived growth factor receptor beta
  • platelet-derived growth factor receptor, beta polypeptide

Frequently Asked Questions

Symptoms of primary familial brain calcification can vary widely, even within the same family. They often develop gradually and may include movement disorders (like Parkinsonism or dystonia), psychiatric symptoms (such as mood changes, psychosis, or dementia), headaches, seizures, and speech difficulties. The onset can range from childhood to late adulthood. Diagnosis is often made when brain imaging reveals characteristic calcium deposits.
Yes, for PDGFRB-associated chronic eosinophilic leukemia, targeted therapies such as tyrosine kinase inhibitors (e.g., imatinib) are highly effective because they specifically block the overactive signaling caused by the fusion protein. For other PDGFRB-related conditions like primary familial brain calcification or overgrowth syndromes, treatments are generally supportive and symptom-based, as there are currently no specific therapies that directly address the underlying genetic defect. Research into targeted approaches for these conditions is ongoing.
Diagnosis depends on the presenting symptoms. For blood cancers like PDGFRB-associated chronic eosinophilic leukemia, blood tests, bone marrow biopsies, and specific genetic tests (like FISH or PCR) to detect ETV6-PDGFRB fusion genes are used. For primary familial brain calcification, diagnosis involves brain imaging (CT or MRI) to identify calcium deposits, often followed by genetic testing of the PDGFRB gene. For other developmental disorders, clinical evaluation combined with targeted genetic sequencing helps pinpoint the specific PDGFRB mutation and associated syndrome.
The PDGFRB gene plays a critical role in regulating cell growth, division, and survival across many tissues. The specific type of mutation and its effect on the PDGFRβ protein's function determine the resulting condition. For example, gene fusions (like in leukemia) lead to *overactive* signaling, causing uncontrolled cell growth. Other mutations might impair the protein's ability to regulate calcium or phosphate, leading to calcification, or cause subtle changes in signaling pathways during development, resulting in overgrowth or premature aging syndromes. The location and nature of the genetic change dictate the specific cellular dysfunction and clinical outcome.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ