The lipid translocase, ABCA4: seeing is believing

Pollock, Naomi Laura; Callaghan, Richard

doi:10.1111/j.1742-4658.2011.08169.x

Cited by 22Retinal Development and DisordersDrug Transport and Resistance MechanismsRetinoids in leukemia and cellular processes

The lipid translocase, ABCA4: seeing is believing

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Pollock, Naomi Laura, Callaghan, Richard·2011·The FEBS Journal

DOI 10.1111/j.1742-4658.2011.08169.x

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Abstract

Mutations to members of the A subfamily of ATP binding cassette (ABC) proteins are responsible for a number of diseases; typically they are associated with aberrant cellular lipid transport processes. Mutations to the ABCA4 protein are linked to a number of visual disorders including Stargardt’s disease and retinitis pigmentosa. Over 500 disease‐associated mutations in ABCA4 have been demonstrated; however, the genotype–phenotype link has not been firmly established. This shortfall is primarily because the function of ABCA4 in the visual cycle is not yet fully understood. One hypothesis suggests that ABCA4 mediates the trans‐bilayer translocation of retinal‐phosphatidylethanolamine conjugates to facilitate the retinal regeneration process in the visual cycle. This review examines the evidence to support, or refute, this working hypothesis on the function of this clinically important protein.

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Most genes encoding retinoid cycle enzymes are associated with retinal disease.
“Most of the genes encoding retinoid cycle enzymes are associated with retinal disease (Figure 36).64,76,77,285,547−552”
From Chemistry of the Retinoid (Visual) Cycle (2014) · cites this paper as [77]
The Abbreviations section (p. 1) links ABCA4 mutations to visual disorders, and the retinoid-cycle overview (p. 3) places ABCA4 in that cycle. The paper does not establish that *most genes encoding retinoid-cycle enzymes* are associated with retinal disease; its disease discussion focuses on ABCA4. (LLM, conf=0.84)
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ABCA4
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Authors: Pollock, N. L., & Callaghan, R.
Affiliations: University of Oxford (GB)
ORCID: Pollock, Naomi Laura
Callaghan, Richard
Venue: The FEBS Journal
Publisher: Wiley
Published: 2011-06-13
Volume: 278
Issue: 18
Pages: 3204-3214
ISSN: 1742-464X (ISSN-L)
1742-4658
DOI: 10.1111/j.1742-4658.2011.08169.x
OpenAlex: W2117806656
Cited by: 22
References: 93
Citations by year: 2022: 1 · 2021: 2 · 2018: 1 · 2017: 4 · 2016: 2 · 2015: 1 · 2014: 3 · 2013: 3 · 2012: 3
FWCI: 0.32
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: FEBS Journal (publishedVersion)
PubMed (publishedVersion)
ANU Open Research (Australian National University) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
Health Sciences › Medicine › Oncology › Drug Transport and Resistance Mechanisms
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
Keywords: ABCA4, ABCA4 mutations, Stargardt disease, retinitis pigmentosa, visual cycle, retinal regeneration, genotype-phenotype correlation, lipid transport, ATP-binding cassette proteins
MeSH terms: Animals, Humans, Lipid Bilayers, Mutation, Retina, Retinoids, Eye Diseases, Hereditary, ATP-Binding Cassette Transporters

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