STRC Gene (Stereocilin)
TL;DR: STRC (chr15q15.3) encodes stereocilin — outer hair cell attachment protein. ~6kb coding = too big for single AAV. Misha: compound heterozygous, one pathogenic + one VUS (E1659A, under reclassification). Treatment path: dual-vector AAV gene therapy.
Located on chromosome 15q15.3. Encodes stereocilin — a protein forming the tectorial membrane attachment crowns on outer hair cell (OHC) stereocilia. Essential for mechanoelectrical transduction efficiency.
Size: ~6 kb coding sequence. Too large for single AAV vector (requires dual-vector approach).
Misha: Compound heterozygous STRC variants (one pathogenic, one VUS E1659A). The VUS is under reclassification via AlphaFold3 structural analysis.
Connections
[applies]Misha[see-also]DFNB16 Hearing Loss — the phenotype caused by STRC mutations[see-also]STRC Gene Therapy Research — treatment direction[see-also]Dual Vector AAV Strategy — delivery mechanism needed for STRC size[source]Patient Registry Blueprint for STRC Hearing Loss[part-of]STRC Gene Therapy[part-of]MOC - Psychology & ADHD