rs879922
This is a intron variant variant in the ACE2 gene.
▶Research that mentions this SNP (1)
▶Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathyAssociationN=227Lize van der Merwe et al.(2008)· Human Genetics
This study investigated four SNPs in the ACE2 gene in 227 individuals from 22 hypertrophic cardiomyopathy families with known founder mutations. The G-allele of rs879922 was significantly associated with increased left ventricular mass (β=18.7 g, p=0.0205), maximum interventricular septal thickness (β=1.9 mm, p=0.0393), and maximum posterior wall thickness (β=0.7 mm, p=0.0090), independent of blood pressure and the primary disease-causing mutation.
About ACE2
The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. ACE2 is known to be expressed in various human organs, and its organ- and cell-specific expression suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronavirus HCoV-NL63 and the human severe acute respiratory syndrome coronaviruses, SARS-CoV and SARS-CoV-2, the latter is the causative agent of coronavirus disease-2019 (COVID-19). Multiple splice variants have been found for this gene and the dACE2 (or MIRb-ACE2) splice variant has been found to be interferon inducible. [provided by RefSeq, Nov 2020]
View all ACE2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…