Anti-human CCM2; Cerebral cavernous malformations1 2 protein

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 7; NC_000007.14 (44999746..45076470). Location: 7p13

Polyclonal

Rabbit IgG

Rabbit

Protein A purified

Lyophilized

The lyophilized antibody is stable at room temperature for up to 1 month. The reconstituted antibody is stable for at least two weeks at 2-8 degree C. Frozen aliquots are stable for at least 6 months when stored at -20 degree C. Avoid repeated freeze-thaw cycles!

Manufactured in an ISO 9001:2008 Certified Laboratory.

Small volumes of anti-CCM-2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Cerebral cavernous malformations (CCMs) are sporadically acquired or inherited vascular lesions of the central nervous system consisting of clusters of dilated thin-walled blood vessels that predispose individuals to seizures and stroke. Familial CCM is caused by mutations in KRIT1 (CCM1) or in malcavernin (CCM2). The roles of the CCM proteins in the pathogenesis of the disorder remain largely unknown. It was shown that the CCM1 gene product, KRIT1, interacts with the CCM2 gene product, malcavernin. Analogous to the established interactions of CCM1 and beta1 integrin with ICAP1, the CCM1/CCM2 association is dependent upon the phosphotyrosine binding (PTB) domain of CCM2. A familial CCM2 missense mutation abrogates the CCM1/CCM2 interaction, suggesting that loss of this interaction may be critical in CCM pathogenesis. CCM2 and ICAP1 bound to CCM1 via their respective PTB domains differentially influence the subcellular localization of CCM1. The data indicate that the genetic heterogeneity observed in familial CCM may reflect mutation of different molecular members of a coordinated signaling complex.

Western Blot (WB), Immunofluorescence (IF)

Western Blot: Use 1-5 ug/ml IF/IHC Use 1:200

48,837 Da

cerebral cavernous malformation 2

malcavernin; cerebral cavernous malformations 2 protein

Malcavernin

C7orf22??[Similar Products]

CCM2_HUMAN

This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]

Function: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions

By similarity. May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock

By similarity.

Subunit structure: Part of a complex with MAP2K3, MAP3K3 and RAC1. Binds RAC1 directly and independently of its nucleotide-bound state

By similarity. Interacts with HEG1 and KRIT1; KRIT1 greatly facilitates the interaction with HEG1

By similarity. Interacts with PDCD10. Ref.10 Ref.11

Subcellular location: Cytoplasm

By similarity.

Domain: The C-terminal region constitutes an independently folded domain that has structural similarity with the USH1C (harmonin) N-terminus, despite very low sequence similarity. Ref.11

Involvement in disease: Cerebral cavernous malformations 2 (CCM2) [MIM:603284]: A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.12 Ref.13

Sequence similarities: Belongs to the CCM2 family.Contains 1 PID domain.

1. Plummer et al, Curr Neurol Neurosci Rep 5 (2005) 2. Dashti et al, Neurosurg Focus 21 (2006) 3. Revencu N and Vikkula M, J Med Genet 43 (2006) 4. Yadla et al, S, Neurosurg Focus 29 (2010) 5. Verlaan DJ et al, Neurology 26 (2002)

All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.

While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.