Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease

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Abstract

ABCR is an ABC transporter that is found exclusively in vertebrate photoreceptor outer segments. Mutations in the human ABCR gene are responsible for autosomal recessive Stargardt disease, the most common cause of early onset macular degeneration. In this paper we review our recent work with purified and reconstituted ABCR derived from bovine retina and from cultured cells expressing wild type or site-directed mutants of human ABCR. These experiments implicate all-trans-retinal (or Schiff base adducts between all-trans-retinal and phosphatidylethanolamine) as the transport substrate, and they reveal asymmetric roles for the two nucleotide binding domains in the transport reaction. A model for the retinal transport reaction is presented which accounts for these experimental observations.

Original languageEnglish (US)
Pages (from-to)523-530
Number of pages8
JournalJournal of Bioenergetics and Biomembranes
Volume33
Issue number6
DOIs
StatePublished - Dec 1 2001

Keywords

  • ABC transporter
  • Macular degeneration
  • Retinal degeneration
  • Retinoid transporter

ASJC Scopus subject areas

  • Physiology
  • Cell Biology

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