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anti-Human HEG1 Antibodies:
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Zebrafish (Danio rerio) Polyclonal HEG1 Primary Antibody for WB - ABIN1881407
Mably, Mohideen, Burns, Chen, Fishman: heart of glass regulates the concentric growth of the heart in zebrafish. in Current biology : CB 2003
Show all 2 Pubmed References
These studies establish that the binding of HEG1 to Rasip1 (show RASIP1 Antibodies) mediates Rap1 (show RABGEF1 Antibodies)-dependent recruitment of Rasip1 (show RASIP1 Antibodies) to and stabilization of endothelial cell cell-cell junctions.
Human patients with cerebral cavernous malformations who lack exonic mutations in krev (show RAP1B Antibodies) interaction trapped protein (KRIT)1 (show KRIT1 Antibodies), cerebral cavernous malformation (CCM) protein 2, or programmed cell death (PDCD)10 (show PDCD10 Antibodies) 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 Antibodies), in the aortas of early mouse embryos lacking CCM2 (show CCM2 Antibodies) 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