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Concept information

Preferred term

ATP Binding Cassette Transporter, Subfamily A, Member 4  

Type

  • Topical Descriptor

Entry terms

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

Scope note

  • 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.

History note

  • 2019 (2018)

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URI

http://www.yso.fi/onto/mesh/D000073882

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