Ontology highlight
ABSTRACT:
SUBMITTER: Fisher OS
PROVIDER: S-EPMC3558538 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
FEBS letters 20121222 3
Cerebral cavernous malformations (CCM) are neurovascular dysplasias affecting up to 0.5% of the population. Mutations in the CCM2 gene are associated with acquisition of CCM. We identify a previously uncharacterized domain at the C-terminus of CCM2 and determine its 1.9Å resolution crystal structure. Because this domain is structurally homologous to the N-terminal domain of harmonin, we name it the CCM2 harmonin-homology domain or HHD. CCM2 HHD is observed in two conformations, and we employ ana ...[more]