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. Author manuscript; available in PMC: 2019 Dec 20.
Published in final edited form as: Stroke. 2019 May;50(5):1294–1301. doi: 10.1161/STROKEAHA.118.022314

Table 1.

The FCCM Genes

Locus Name Gene Chromosome
Locus		 Protein Function
CCM1 KRIT1 7q21.2 Krev interaction trapped protein 1 Regulate heart and vessel formation and angiogenesis. Inhibits endothelial cells, apoptosis, migration, and angiogenesis
Alternative name(s): CCM 1 protein
CCM2 CCM2 7p13 CCM 2 protein Regulate heart and vessel formation and integrity
Alternative name(s): Malcavernin Stabilize the endothelial cell junctions
CCM3 PDCD10 3q26.1 Programmed cell death protein 10 Stimulate cell proliferation
Alternative name(s): CCM 3 protein or TF-1 cell apoptosis-related protein 15 Regulates apoptotic pathway
Increase mitogen-activated protein kinase and STK26 activity
Involved with KDR/VEGFR2 signaling
Regulate cardiovascular development and required for angiogenesis, vasculogenesis and hematopoiesis during development

CCM indicates cerebral cavernous malformation; FCCM, familial cerebral cavernous malformation; KDR/VEGFR2, vascular endothelial growth factor receptor 2 and KDR is the human gene encoding it; and STK26, serine/threonine kinase 26.