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Concept information

Preferred term

ATP Binding Cassette Transporter, Subfamily A, Member 4  

Type

  • mesh:Descriptor

Definition

  • An ATP binding cassette sub-family A transporter that translocates 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (RETINOIDS) from the extracellular surface to the cytoplasmic membrane surface of RETINAL ROD CELLS and RETINAL CONE CELLS. Mutations in the ABCA4 gene are associated with Stargardt Disease 1, a hereditary juvenile form of MACULAR DEGENERATION.

Entry terms

  • ABCA4 Transporter
  • ATP Binding Cassette Transporter, Sub-Family A, Member 4
  • Retinal-Specific ATP-Binding Cassette Transporter
  • Stargardt Disease Protein

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-NFJ20N8F-Q

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RDF/XML TURTLE JSON-LD Created 7/11/17, last modified 2/28/18