Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking.

ABSTRACT:

Background

Human angiotensin-converting enzyme 2 (ACE2), a type I transmembrane receptor physiologically acting as a carboxypeptidase enzyme within the renin-angiotensin system (RAS), is a critical mediator of infection by several severe acute respiratory syndrome (SARS) corona viruses. For instance, it has been demonstrated that ACE2 is the primary receptor for the SARS-CoV-2 entry to many human cells through binding to the viral spike S protein. Consequently, genetic variability in ACE2 gene has been suggested to contribute to the variable clinical manifestations in COVID-19. Many of those genetic variations result in missense variants within the amino acid sequence of ACE2. The potential effects of those variations on binding to the spike protein have been speculated and, in som

SUBMITTER: Badawi S 

PROVIDER: S-EPMC9438391 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature