CABP4
Calcium-binding protein 4; modulates voltage-dependent calcium channels (Cav1.4) at photoreceptor synaptic terminals. Essential for photoreceptor synaptic transmission. Null mutations produce an LCA-like phenotype; traditionally associated with congenital stationary night blindness (CSNB).
Preklinik Araştırma
No clinical trial or company program. Academic proof-of-concept: AAV-mediated CABP4 gene augmentation restored synaptic function and vision — with synaptic-ribbon maturation and outer-plexiform-layer reorganization — in the first naturally occurring CABP4-mutant dog model (Beckwith-Cohen et al., Molecular Therapy 2026; Michigan State University).
Kaynaklı ve atıflı — henüz uzman incelemesinden geçmedi
Buradaki her ifade atıf yapılan birincil bir kaynağa dayanır, ancak bu sayfa henüz bir uzman tarafından resmi olarak incelenmedi.
11q13.1
Otozomal Resesif
<1% LCA vakalarının
Temel Klinik Özellikler
- 1No official LCA subtype number assigned
- 2Phenotypic overlap between LCA and congenital stationary night blindness (CSNB)
- 3Photoreceptor synaptic transmission defect
- 4Null CABP4 mutations produce LCA phenotype; milder mutations cause CSNB