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RANGRF encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Zusätzlich bieten wir Ihnen RAN Guanine Nucleotide Release Factor Antikörper (14) und RAN Guanine Nucleotide Release Factor Proteine (7) und viele weitere Produktgruppen zu diesem Protein an.
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Cardiac sodium channel regulator MOG1 regulates cardiac morphogenesis (zeige XIRP1 ELISA Kits) and heart rate.
Compound mutation of CACNA2D1 (zeige CACNA2D1 ELISA Kits) and RANGRF genes were found. To the best of our knowledge, this is the first comprehensive description of the concurrence of these two mutations and histiocytoid cardiomyopathy.
Results suggest that dominant-negative mutations in MOG1 can impair the trafficking of Na(v)1.5 to the membrane, leading to I(Na) reduction and clinical manifestation of Brugada syndrome.
Our screening of Nav1.5 cofactor MOG1 uncovered a novel nonsense variant that appeared to be present at a higher frequency among these patients with atrial fibrillation and Brugada syndrome than control subjects.
in cardiomyocytes, MOG1 is mostly localized in the cell membrane and co-localized with Nav1.5, indicating that MOG1 is a critical regulator of sodium channel function in the heart
This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript variants.
ran guanine nucleotide release factor
, RAN guanine nucleotide release factor
, zinc finger, MYND domain containing 19
, Ran GTPase binding protein
, MOG1 homolog
, ran-binding protein MOG1