Full Name: Angiotensinogen
Genomic Location: Chromosome 1:230,702,523-230,714,590
Protein Size: 485 amino acids
Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis. The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease.
- rs699 is linked to AGT, it is located within the coding region of the gene.
- Population frequencies are approximately 45% for the reference allele (T) and 55% for the alternate allele (C).
- Studies suggest the C allele is associated with power-based sports and a sensitivity to salt.