ANK2 Gene

ANK2 Gene

The ANK2 gene provides instructions for making a protein called ankyrin-B. Ankyrin- B is part of a family of ankyrin proteins. Ankyrins help organize the cell’s structural framework and link certain proteins that span the cell membrane to this framework. Additionally, ankyrins play key roles in cell migration and cell proliferation. Mutations in the ANK2 gene have been associated with a dominantly inherited, cardiac arrhythmia syndrome known as ankyrin-B syndrome. A thr1626-to-asn (T1626N) substitution, and a 4864C-A transversion in exon 42 of the ANK2 gene, resulting in a leu1622-to-ile (L1622I) substitution are thought to be involved in ankyrin-B syndrome.

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