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Deciphering the impact of ABCA4 genetic variants of unknown significance in inherited retinal disease through computational and functional approaches.

Advances in protein chemistry and structural biology - 1 Jan 2025

Cevik Senem, Jones Jazzlyn S, Biswas Subhasis B, Biswas-Fiss Esther E

Abstract excerpt

Variants in the ABCA4 gene are a fundamental cause of several inherited retinal degenerations (IRDs), including Stargardt macular dystrophy, retinitis pigmentosa, and cone-rod dystrophy. These three ABCA4-driven diseases are estimated to cause blindness in 1.4 million people worldwide. As a result, genetic testing of ABCA4 is increasingly common in clinical settings. Of the 4111 identified variants in ABCA4, 1668...

Topics

Humans
ATP-Binding Cassette Transporters
Retinal Diseases
Genetic Variation
Computational Biology

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 40973409
DOI: 10.1016/bs.apcsb.2024.12.003
PMCID: PMC12961906

Genes

ABCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Deciphering the impact of ABCA4 genetic variants of unknown significance in inherited retinal disease through computational and functional approaches.PMID 40973409Read ↗

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