Three alternative transcripts encoding the same protein, differing only in their 5' UTRs, have been identified for this gene.
[6] Loss of function mutations in PDCD10 result in the onset of Cerebral Cavernous Malformations (CCM) illness.
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.
CCM3 encodes a protein called Programmed Cell Death 10 (PDCD10).
PDCD10 has roles in vascular development and VEGF signaling1,[7] apoptosis[8] and functions as part of a larger signaling complex that includes germinal center kinase III.