KRIT1 Antibody (monoclonal) (M01)
Mouse monoclonal antibody raised against a partial recombinant KRIT1.
|Calculated MW||84348 Da|
|Other Names||Krev interaction trapped protein 1, Krev interaction trapped 1, Cerebral cavernous malformations 1 protein, KRIT1, CCM1|
|Target/Specificity||KRIT1 (NP_004903, 637 a.a. ~ 736 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||KRIT1 Antibody (monoclonal) (M01) is for research use only and not for use in diagnostic or therapeutic procedures.|
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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.
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity. Stockton RA, et al. J Exp Med, 2010 Apr 12. PMID 20308363.Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation. Reddy S, et al. Graefes Arch Clin Exp Ophthalmol, 2010 Sep. PMID 20306072.Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype. Petersen TA, et al. AJNR Am J Neuroradiol, 2010 Feb. PMID 19833796.C329X in KRIT1 is a founder mutation among CCM patients in Sardinia. Cau M, et al. Eur J Med Genet, 2009 Sep-Oct. PMID 19454328.
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