ATP binding cassette subfamily A member 4
Última actualización 27 Oct 2023
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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.
Normal function
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.
Conditions referring to this gene or chromosome
Otros nombres
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
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Lecturas adicionales y referencias
- ATP binding cassette subfamily A member 4; MedlinePlus, National Library of Medicine.
- Molday RS, Zhang K. Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration. Prog Lipid Res. 2010 Oct;49(4):476-92. doi: 10.1016/j.plipres.2010.07.002. Epub 2010 Jul 13.
- Molday RS, Zhong M, Quazi F. The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration. Biochim Biophys Acta. 2009 Jul;1791(7):573-83. doi: 10.1016/j.bbalip.2009.02.004. Epub 2009 Feb 20.
- Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium; Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20.
- Tsybovsky Y, Molday RS, Palczewski K. The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease. Adv Exp Med Biol. 2010;703:105-25. doi: 10.1007/978-1-4419-5635-4_8.
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