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PDCD10

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# SNPs2
 Max MagnitudeChromosome positionSummary
rs10575177865.2167,704,889
rs8860418885.2167,687,621

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.GHR

More than a dozen mutations (most currently lacking dbSNP rsIDs) 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.GHR