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GENATLAS PHENOTYPE

last update : 02-10-2009

Symbol	ATFB6
Location	1p36.22
Name	atrial fibrillation, familial, 6
Corresponding gene	NPPA
Main clinical features	atrial fibrillation at a mean age of 40 years transition from paroxysmal to chronic atrial fibrillation or to arrest of atrial activation, suggesting progressive electrical remodeling
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
Type	susceptibility factor

Remark(s)

heterozygous frameshift mutation causing a 12-amino acid extension to the C terminus of NPPA associated to ATFB6 (haves only minor effects on natriuretic peptide receptor interactions but markedly modifies peptide proteolysis) (Dickey 2009)