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Fraction of tumor cells in isolated cases of melanomas, colorectal, prostate and ovarian cancers exhibited moderate cytoplasmic positivity. Remaining cancer tissues were negative.
GENE INFORMATION
Gene name
KRIT1 (HGNC Symbol)
Synonyms
CAM, CCM1
Description
KRIT1, ankyrin repeat containing (HGNC Symbol)
Entrez 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]