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Atrial fibrillation, familial, 7; ATFB7

Disease ID:99
Name:Atrial fibrillation, familial, 7; ATFB7
Associated with:1 target
Familial atrial fibrillation
Database Links
Disease Ontology: DOID:0050650
OMIM: 612240
Orphanet: ORPHA334


Therapeutic use:  Potential use in management of atrial fibrillation, via blockade of IKur
References:  1,4
Mutations:  Kv1.5 is associated with 11 mutation. Click here for details


No ligand related data available for Atrial fibrillation, familial, 7; ATFB7


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1. Brundel BJ, Van Gelder IC, Henning RH, Tuinenburg AE, Wietses M, Grandjean JG, Wilde AA, Van Gilst WH, Crijns HJ. (2001) Alterations in potassium channel gene expression in atria of patients with persistent and paroxysmal atrial fibrillation: differential regulation of protein and mRNA levels for K+ channels. J Am Coll Cardiol, 37 (3): 926-32. [PMID:11693772]

2. Christophersen IE, Olesen MS, Liang B, Andersen MN, Larsen AP, Nielsen JB, Haunsø S, Olesen SP, Tveit A, Svendsen JH et al.. (2013) Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation. Eur Heart J, 34 (20): 1517-25. [PMID:23264583]

3. Olson TM, Alekseev AE, Liu XK, Park S, Zingman LV, Bienengraeber M, Sattiraju S, Ballew JD, Jahangir A, Terzic A. (2006) Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum Mol Genet, 15 (14): 2185-91. [PMID:16772329]

4. Van Wagoner DR, Pond AL, McCarthy PM, Trimmer JS, Nerbonne JM. (1997) Outward K+ current densities and Kv1.5 expression are reduced in chronic human atrial fibrillation. Circ Res, 80 (6): 772-81. [PMID:9168779]

5. Yang T, Yang P, Roden DM, Darbar D. (2010) Novel KCNA5 mutation implicates tyrosine kinase signaling in human atrial fibrillation. Heart Rhythm, 7 (9): 1246-52. [PMID:20638934]

6. Yang Y, Li J, Lin X, Yang Y, Hong K, Wang L, Liu J, Li L, Yan D, Liang D et al.. (2009) Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation. J Hum Genet, 54 (5): 277-83. [PMID:19343045]