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.
蛋白别名: apoptosis-related protein 15; Cerebral cavernous malformations 3 protein; MGC1212; MGC24477; PDCD 10; Programmed cell death protein 10; TF-1 cell apoptosis-related protein 15
基因别名: CCM3; PDCD10; TFAR15
UniProt ID: (Human) Q9BUL8
Entrez Gene ID: (Human) 11235