CCM-1

• Description:

  Cerebral cavernous malformations (CCM) are frequent vascular abnormalities caused by mutations in one of the CCM genes. CCM-1 (also known as KRIT1) stabilizes endothelial junctions and is essential for vascular morphogenesis in mouse embryos. However, cellular functions of CCM-1 during the early steps of the CCM pathogenesis remain unknown. It was shown that CCM-1 represents an antiangiogenic protein to keep the human endothelium quiescent. CCM-1 inhibits endothelial proliferation, apoptosis, migration, lumen formation, and sprouting angiogenesis in primary human endothelial cells. CCM-1 strongly induces DLL4-NOTCH signaling, which promotes AKT phosphorylation but reduces phosphorylation of the mitogen-activated protein kinase ERK. Consistently, blocking of NOTCH activity alleviates CCM-1 effects. ERK phosphorylation is increased in human CCM lesions. Transplantation of CCM-1-silenced human endothelial cells into SCID mice recapitulates hallmarks of the CCM pathology and serves as a unique CCM model system.

• Synonyms:

  CCM-1; Cerebral cavernous malformations protein 1; KRIT1; KRIT1, ankyrin repeat containing; CAM

• NCBI Gene ID:

  889

• UniProt:

  O00522

• Accession Number:

  NP_004903.2

• Accession Number mRNA:

  NM_004912,3

• Chromosomal Location:

  7q21.2

• Reactivity:

  Anti-Human

• Cross Reactivity:

  Human

• Target Antigen:

  Recombinant human CCM1 (RT #300-054)

• Clone:

  Rabbit IgG

• Applications:

  WB, IF

• Purification Method:

  Protein A purified

• Assay Protocol:

  Centrifuge vial prior to opening. Reconstitute in sterile water to a concentration of 0.1-1.0 mg/ml.

• Bioactivity:

  Western Blot: Use 1-5 µg/ml

• Form:

  Lyophilized

• Buffer:

  0.5X PBS, pH 7.2

• Reconstitution:

  Water

• Storage Conditions:

  The lyophilized antibody is stable for at least 2 years at -20°C. After sterile reconstitution the antibody is stable at 2-8°C for up to 6 months. Frozen aliquots are stable for at least 6 months when stored at -20°C. Addition of a carrier protein or 50% glycerol is recommended for frozen aliquots.

• Host or Source:

  Rabbit