PDCD10

Chr 3AD

programmed cell death 10

Also known as: CCM3, TFAR15

NCBI Gene: 11235 ENSG00000114209 UniProt: Q9BUL8 OMIM: 609118

The PDCD10 protein regulates cell proliferation and apoptosis, modulates MAPK signaling pathways, and is essential for normal vascular development and angiogenesis. Mutations cause cerebral cavernous malformations-3, which are vascular malformations that lead to seizures and cerebral hemorrhages, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, indicating that protein function is critical for normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOFmechanismADLOEUF 0.331 OMIM phenotype

Clinical Summary— PDCD10

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.96). One damaged copy is likely sufficient to cause disease.

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