|Locus||Chr. 4 q25-q27|
The protein encoded by this gene is required for targeting and stability of Na+/Ca++ exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4. Multiple transcript variants encoding different isoforms have been described.
The protein encoded by the ANK2 gene is a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation.
- "Entrez Gene: ANK2 ankyrin 2, neuronal".
- Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB, Donnelly P, Vergnaud G, Bachner L, Moisan JP et al. (November 1995). "Mapping of a gene for long QT syndrome to chromosome 4q25-27". Am. J. Hum. Genet. 57 (5): 1114–22. PMC 1801360. PMID 7485162.
- Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogné K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V (February 2003). "Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death". Nature 421 (6923): 634–9. PMID 12571597. doi:10.1038/nature01335.
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