Clinically observed RASA1 missense mutants exhibit diverse RasGAP protein behaviors in vitro
Maxum E Paul, Rediet B Delelegne, Jocelyn E Chau, Titus J Boggon · 2026
Read Clinically observed RASA1 missense mutants exhibit diverse RasGAP protein behaviors in vitro by Maxum E Paul, Rediet B Delelegne, Jocelyn E Chau, Titus J Boggon (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13311836.txt.
Description
Maxum E Paul and colleagues report a 2026 laboratory study of disease-linked mutations in RASA1, a gene tied to blood vessel disorders and cancer. RASA1 makes RasGAP, a protein that switches off Ras signaling by speeding up its conversion to an inactive form. The team catalogued reported disease mutations, mapped them onto the protein's structure, and tested selected mutants in vitro for expression, heat stability, binding to a partner protein, and enzyme speed.
The mutants fell into distinct classes defined by how they disturb the protein. Stability proved necessary for full enzyme activity but not sufficient on its own, since destabilizing changes anywhere along the protein could weaken its function. One region, the C2 domain, stood apart: certain residues there seem to regulate activity through routes other than stability. Sorting mutations by behavior gives researchers a clearer picture of how one gene produces varied disease.
Catalog record
| CREATOR | Maxum E Paul, Rediet B Delelegne, Jocelyn E Chau, Titus J Boggon |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 47 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |