ABCA4 pre-mRNA

ABCA4 pre-mRNA is the unspliced RNA intermediate transcribed from the ABCA4 gene, containing all exons and introns prior to RNA processing. Pathogenic variants in non-coding regions—especially deep intronic mutations—can disrupt normal splicing of ABCA4 pre-mRNA, resulting in aberrant mRNA and deficient ABCA4 protein production. This leads to loss of function in the ABCA4 transporter, a critical protein found in retinal photoreceptors. Such splicing defects are associated with inherited retinal diseases, most notably Stargardt disease. Recent approaches target ABCA4 pre-mRNA with antisense oligonucleotides as a therapeutic strategy to correct splicing errors and restore protein production.

Other names

ABCA4 gene transcriptABCA4 precursor mRNA

Antisense oligonucleotides bind to ABCA4 pre-mRNA to modulate splicing and restore normal ABCA4 protein expression