ABCA4 gene

ABCA4 gene

A gene that codes for a transporter protein found in the photoreceptor membrane disks in retinal rod cells. Mutations cause retinal degenerative diseases such as Stargardt's macular dystrophy, cone-rod dystrophy and some recessive forms of RETINITIS PIGMENTOSA.
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The most common form of the disease is caused by a genetic mutation of the ABCA4 gene leading to the accumulation of toxic vitamin A byproducts (primarily A2E) in the retina, which results in the gradual deterioration of photoreceptors and vision.
The disease is caused by a mutation in the ABCA4 gene, which leads to the accelerated formation and accumulation of toxic vitamin A dimers in the retina that cause progressive retinal cell death and permanent loss of vision.
Mutations in ABCA4 gene are known to cause Stargardt disease (STGD) which is the most frequent macular dystrophy [7] and typically presents with central macular atrophy and yellow-white dots at the posterior pole, primarily at the level of the RPE.
An EIAV vector was first tested in the case of the ABCA4 gene, which has a 6.8 kb coding sequence.
Naash (55) reported that nanoparticle delivery of normal ABCA4 gene preserved vision in a mouse model of SMD.
Autosomal recessive STGD is frequently caused by seven specific mutations of the ABCA4 gene in South African whites, particularly those of Afrikaner ancestry.
The StarGen treatment involves the injection of a man-made virus that delivers a healthy copy of the ABCA4 gene into cells in the retina.
Because of the high frequency of polymorphisms, which add to the complexity of the molecular genotype, and the relatively large size of the gene, which contains 50 exons, molecular scanning of the ABCA4 gene is particularly cumbersome.
In the article titled "Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles" [1], the first and last names of all the authors were reversed.
This rare disease is caused by a mutation in the ABCA4 gene, which leads to the accelerated formation and accumulation of toxic vitamin A dimers in the retina that cause progressive retinal cell death and permanent loss of vision.
Mutation Screening of the ABCA4 Gene. Total genomic DNA was extracted from whole blood samples on an iPrep purification instrument using the iPrep PureLink gDNA Blood Kit (Invitrogen, Life Technologies, Carlsbad, CA) according to the manufacturer's instructions.
A mutation in the ABCA4 gene leads to the accelerated formation and accumulation of toxic vitamin A dimers in the retina that cause progressive retinal cell death and permanent loss of vision.