NPPA Chromosome 1
Natriuretic peptide A
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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
RS143419574
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 6
Health Risk
RS150794709
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 6
Health Risk
RS202102042
Conflicting classifications of pathogenicity
Atrial standstill 2, Atrial fibrillation, familial
Health Risk
RS587776851
Pathogenic
Atrial fibrillation, familial, 6
Health Risk
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 |