| ncRNA Symbol: | KRIT1 | | Full Name: | KRIT1, ankyrin repeat containing | | Category: | mRNA | | Synonyms: | CAM|CCM1 | | Chromosome: | chr7 | | Strand: | - | | Coordinate: | | Start Site(bp): | 92198969 | End Site(bp): | 92246166 | | | Gene Summary: | 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] | | External Links: | |
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