CCM2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CCM2 wild-type allele is located in the vicinity of 7p13 and is approximately 77 kb in length. This allele, which encodes cerebral cavernous malformations 2 protein, is involved in signal transduction and heart and blood vessel morphogenesis. Mutations in the gene are associated with cerebral cavernous malformations 2.

**Synonyms:** - C7orf22 - CCM2 Scaffold Protein wt Allele - CCM2 Scaffolding Protein Gene - Cerebral Cavernous Malformation 2 Gene - Chromosome 7 Open Reading Frame 22 Gene - MGC4607 - OSM - Osmosensing Scaffold for MEKK3 Gene - PP10187