Chromosome - 1 SNP - rs12759306 Gene Name - ABCA4

Basic Information

Genotype Frequency
  • CC
  • AC
  • --
  • AA
  • 00
Allele Frequency
  • C
  • -
  • A
  • 0

SNP Expression Description

How does this fit in to your daily life?

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General SNP Description

More research is being conducted on this SNP. This gene codes for a protein that belongs to an ATP-binding Cassette Transporter (ABC) family of proteins. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate, which means that it is exclusively expressed in retina photoreceptor cells. N-retinylidene-PE is an essential molecule that the ABC transporter transports across the photoreceptor cells. ABC transporters are transmembrane proteins that utilize the energy of ATP binding and hydrolysis in order to translocate certain substrates across the membrane and non-transport related processes such as translation of RNA and DNA repair. Mutations in this gene are associated with Stargardt Disease, which is a form of juvenile macular degeneration that causes progressive vision loss usually to the point of legal blindness. Other possible diseases associated with this gene are Fundus Flavimaculatus (FFM), which is very similar to Stargardt Disease, however the main difference between the two being that FFM has a late onset and slow progression of the disease. Another possibility being Macular Degeneration that is due to age. This is the most common cause of irreversible vision loss in the developed world and it is characterized by small yellow accumulations of proteins and lipids that lie beneath the retinal pigment epithelium within an elastin containing structure called, the Bruch’s membrane. Most common symptoms include blurry vision, a loss of contrast sensitivity, distorted vision, slow recovery of visual function after exposure to bright light, atrophy, decreased vision sharpness, etc. Other diseases include Cone-Rod Dystrophy 3, this is a condition that a person is born with and it is caused by breakdown of photoreceptor cells characterized by an initial loss of cone photoreceptors followed by the degeneration of rods. Photoreceptor cells capture and process light making it possible for people to see. Photoreceptor cells are located in retina, the light sensing part of the eye. Thus, their breakdown leads to a decreased vision sharpness and sensitivity in the central visual field or progressive vision loss in patients. Retinitis Pigmentosa is another disease that is possible with mutations in this gene, it is an inherited disease that is present at birth and is caused by a breakdown of photoreceptor cells primary loss of rod photoreceptor cells followed by cones. Most common symptoms include night vision blindness and loss of mid-peripheral visual field followed by loss of peripheral visual field and as the disease progresses central visual field is lost as well. Essentially this means that as the photoreceptor cells breakdown and die patients will experience progressive vision loss. Possible supplements that could be taken for healthy eyes and to reduce the risk of vision loss from age-related Macular Degeneration are Enzyme CoQ10, Fish Oil (two most common omega-3’s contained in fish oil are: DHA and EPA), Zinc, Vitamin C, Vitamin E,  Beta-Carotene, Vitamin B6, Lutein and Zeaxanthin. Both Lutein and Zeaxanthin are carotenoids that are found in green leafy vegetables and highly colored fruits and vegetables.

For more information, please schedule a consult with one of our HealthCoach7 Genetic Specialist.