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Article

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

Human molecular genetics - 1 Oct 2005

Wiszniewski Wojciech, Zaremba Charles M, Yatsenko Alexander N, Jamrich Milan, Wensel Theodore G, Lewis Richard Alan, Lupski James R

Abstract excerpt

ABCA4, also called ABCR, is a retinal-specific member of the ATP-binding cassette (ABC) family that functions in photoreceptor outer segments as a flipase of all-trans retinal. Homozygous and compound heterozygous ABCA4 mutations are associated with various autosomal recessive retinal dystrophies, whereas heterozygous ABCA4 mutations have been associated with dominant susceptibility to age-related macular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16103129
DOI: 10.1093/hmg/ddi310

Genes

ABCA4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.PMID 16103129Read ↗

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