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Receptor 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).. Additionally we are shipping HEG1 Antibodies (20) and many more products for this protein.
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These studies establish that the binding of HEG1 to Rasip1 (show RASIP1 Proteins) mediates Rap1 (show RABGEF1 Proteins)-dependent recruitment of Rasip1 (show RASIP1 Proteins) to and stabilization of endothelial cell cell-cell junctions.
Human patients with cerebral cavernous malformations who lack exonic mutations in krev (show RAP1B Proteins) interaction trapped protein (KRIT)1 (show KRIT1 Proteins), cerebral cavernous malformation (CCM) protein 2, or programmed cell death (PDCD)10 (show PDCD10 Proteins) protein do not have mutations in HEG.
These data show that HEG1 can recruit the Rap1-KRIT complex to the plasma membrane.
Identification of the zebrafish heart of glass (heg) gene. Description of HEG's role in the regulation of concentric heart growth in zebrafish.
Defects in the hearts of zebrafish lacking heg or ccm2 (show CCM2 Proteins), in the aortas of early mouse embryos lacking CCM2 (show CCM2 Proteins) and in the lymphatic vessels of neonatal mice lacking HEG1 were associated with abnormal endothelial cell junctions like those observed in human CCMs
Receptor 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).
HEG homolog 1
, heart of glass
, protein HEG homolog 1