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CABP4
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).
Henüz Hedefli Tedavi Yok
Kromozomal Lokus
11q13.1
Kalıtım
Otozomal Resesif
Sıklık
<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