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CCT2
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.
No Targeted Treatment Yet
Chromosomal Locus
12q15
Inheritance
Autosomal Recessive
Frequency
<1% of LCA cases
Key Clinical Features
- 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