CCM2 translation product contains a putative PTP domain. The same domain had been found in ICAP1-alpha (MIM.607153), a binding partner of the CCM1 product KRIT1 (MIM.604214), which is mutant in cerebral cavernous malformations type 1.
Cerebral cavernous malformations (CCMs)
Cerebral cavernous malformations (CCMs) are vascular abnormalities of the brain that can result in a variety of neurological disabilities, including hemorrhagic stroke and seizures.
Mutations in the gene KRIT1 are responsible for CCM1, mutations in the gene MGC4607 are responsible for CCM2, and mutations in the gene PDCD10 are responsible for CCM3.
References
Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. Deletions in CCM2 are a common cause of cerebral cavernous malformations. Am J Hum Genet. 2007 Jan;80(1):69-75. PMID: 17160895