NPPA Chromosome 1

Natriuretic peptide A
4 variants 4 Health Risk

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What This Gene Does
The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
Natriuretic peptides
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000175206
Associated Conditions (5)
Atrial fibrillation
familial
6
Atrial standstill 2
Inborn genetic diseases
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS143419574 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 6
RS150794709 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial, 6
RS202102042 Health Risk Conflicting classifications of pathogenicity Atrial standstill 2, Atrial fibrillation, familial
RS587776851 Health Risk Pathogenic Atrial fibrillation, familial, 6
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