RANGRF Antibody

1. Suggest that p.E61X_RANGRF is a rare genetic variation with an uncertain role in Brugada Syndrome. PMID: 24142675
2. Compound mutation of CACNA2D1 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. PMID: 24438356
3. 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. PMID: 21447824
4. 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. PMID: 21621375
5. 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 PMID: 18184654

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HGNC: 17679

OMIM: 607954

KEGG: hsa:29098

STRING: 9606.ENSP00000226105

UniGene: Hs.408233