NIH R01 · 2024
Molecular basis of ASNA1 cardiomyopathy
PROJECT SUMMARY Post-translational targeting and insertion of tail-anchored (TA) proteins into the endoplasmic reticulum (ER) membrane is a process mediated by the conserved transmembrane domain recognition complex (TRC)/guided entry of TA protein (GET) pathway. Cooperating with the chaperone SGTA and the TRC35-UBL4A-BAG6 pre- targeting complex, ASNA1 (ArsA arsenite transporter, ATP-binding, homolog 1) executes selective recognition of its TA protein substrates, inserting them into the ER membrane via interaction with the ER-bound TRC receptor. Patients carrying V163A/C289W,Q305* compound heterozygous mutations in ASNA1 develop dilated cardiomyopathy (DCM) and death in early infancy, with…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.