Structural and Pathogenic Impacts ofVariants in Retinal Degenerations-An In-Silico Study.
Cevik Senem, Biswas Subhasis B, Biswas-Fiss Esther E·International journal of molecular sciences
The retina-specific ATP-binding cassette transporter protein ABCA4 is responsible for properly continuing the visual cycle by removing toxic retinoid byproducts of phototransduction. Functional impairment caused by ABCA4 sequence variations is the leading cause of autosomal recessive inherited retinal disorders, includ…