ANK2

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The ANK2 gene at 4q25-q27 codes for the 3957 amino acid peptide ankyrin-2 which attaches integral membrane proteins to cytoskeletal elements such as microtubules. It is required for coordinated assembly of the Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum sites in cardiomyocytes. It is also known to be permissive for the expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner segment of rod photoreceptors. There are 4 isoforms.

Mutations cause long QT syndrome 4 (LQT4). This has atypical phenotype with sinus bradycardia, polyphasic T waves, atrial fibrillation and inconsistent QT prolongation.

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