Gene Symbol | KRIT1 |
Entrez Gene ID | 889 |
Full Name | KRIT1, ankyrin repeat containing |
Synonyms | CAM,CCM1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Cerebral cavernous malformations-1, 116860 (3); Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3); Cavernous malformations of CNS and retina, 116860 (3) |