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PDCD10 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PDCD10 gene

The PDCD10 gene provides instructions for making a protein involved in blood vessel structure and the regulation of programmed cell death.

Normal Function

The PDCD10 gene (also known as CCM3) provides instructions for making a protein that appears to play a role in the structure of blood vessels. While the exact function of the PDCD10 protein is unclear, studies suggest that it works with other proteins to help strengthen the interactions between cells and limit leakage from blood vessels. This protein is also thought to be involved in pathways that signal cells to self-destruct (undergo apoptosis) when they have completed a certain number of cell divisions or accumulated errors in their DNA.

Health Conditions Related to Genetic Changes

Cerebral cavernous malformation

More than a dozen mutations in the PDCD10 gene have been identified in families with cerebral cavernous malformations, which are collections of blood vessels in the brain that are weak and prone to leakage. These mutations include a deletion of the entire gene, deletion of small segments of DNA, and changes in single DNA building blocks (nucleotides). These mutations result in an abnormal or absent PDCD10 protein. It is unclear how mutations in the PDCD10 gene lead to the formation of cerebral cavernous malformations.

Mutations in the PDCD10 gene account for approximately 10 percent of familial cerebral cavernous malformation cases.

Other Names for This Gene

  • apoptosis-related protein 15
  • CCM3
  • cerebral cavernous malformation 3
  • PDC10_HUMAN
  • TFAR15

Genomic Location

The PDCD10 gene is found on chromosome 3.

Frequently Asked Questions

While no therapy eliminates the genetic risk, avoiding high‑impact head trauma, controlling hypertension, and abstaining from smoking may lower bleeding risk. Some clinicians consider antiplatelet or anticoagulant use carefully, balancing clotting versus bleeding risks. Regular MRI surveillance (often every 1–3 years) helps monitor lesion size and guide timely neurosurgical or radiosurgical intervention when indicated.
If a close relative (parent, sibling, or child) has a confirmed cerebral cavernous malformation (CCM), especially if multiple lesions or early onset, you may benefit from genetic testing. Testing can identify a pathogenic PDCD10 variant, clarify inheritance risk, and guide surveillance for you and at‑risk family members. Discuss testing with a neurologist or genetic counselor who can arrange a blood sample and interpret results.
PDCD10-related CCM follows an autosomal‑dominant inheritance pattern, meaning each child of an affected parent has a 50 % chance of inheriting the pathogenic variant. However, penetrance can be variable—some carriers develop lesions while others remain asymptomatic. Genetic counseling is recommended to discuss family planning options and prenatal or pre‑implantation testing if desired.
Sudden onset of severe headache, focal neurological deficits (weakness, numbness, vision changes), seizures, or loss of consciousness can indicate hemorrhage from a CCM. These symptoms require immediate emergency evaluation with neuroimaging (CT or MRI). If your known lesions cause new or worsening symptoms, seek urgent medical attention.
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.

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