CCT2

Chaperonin-containing TCP-1 subunit 2 (CCTβ); a molecular chaperone essential for folding cytoskeletal proteins (actin, tubulin) and phototransduction proteins (Gβ1) in photoreceptors. Compound heterozygous mutations (T400P/R516H) cause LCA through chaperone complex instability.

Temel Klinik Özellikler

• 1No official LCA subtype number assigned
• 2Chaperone complex instability disrupts protein folding in retina
• 3Compound heterozygous mutations identified (T400P and R516H)
• 4Validated in patient-derived iPSC and mouse models