{"symbol":"KRIT1","synonyms":["CCM1"],"name":"KRIT1, ankyrin repeat containing","description":"This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]","ncbiEntrezGeneId":889,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/889","proteins":[{"symbol":"KRIT1_HUMAN","href":"/api/1.0/protein/KRIT1_HUMAN"}],"hgncRootFamilies":[{"name":"Ankyrin repeat domain containing (ANKRD)","href":"/api/1.0/gene_family/Ankyrin+repeat+domain+containing+%28ANKRD%29"}]}