The ABCA4 gene provides instructions for making a protein that is found in the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, the ABCA4 protein is produced in the retina’s light-sensing cells (photoreceptors). The ABCA4 protein transports potentially toxic substances that can damage photoreceptors. These substances form after phototransduction, the process by which light entering the eye is converted into electrical signals that are transmitted to the brain. The ABCA4 protein removes one of these substances, called N-retinylidene-PE, from photoreceptors.
Other Names
ABCA4_HUMAN; ABCR; ATP-binding cassette sub-family A member 4; ATP-binding cassette transporter, retinal-specific; ATP-binding cassette, sub-family A (ABC1), member 4; photoreceptor rim protein; retina-specific ABC transporter; retinal-specific ATP-binding cassette transporter; RIM ABC transporter; RIM protein; RMP
Related Genetics Topics
- Retinitis pigmentosa — MedlinePlus Genetics
- Stargardt macular degeneration — MedlinePlus Genetics
- Age-related macular degeneration — MedlinePlus Genetics
- Cone-rod dystrophy — MedlinePlus Genetics
Identifiers
- NCBI Gene: 24
- OMIM: 601691
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
