ATP Binding Cassette Transporter, Subfamily A, Member 4
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.
Year introduced: 2019 (2018)
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Subheadings:
Tree Number(s): D09.400.430.890.020.381.750, D12.776.157.530.100.050.750, D12.776.395.550.020.381.750, D12.776.543.550.192.381.750, D12.776.543.585.100.190.750
MeSH Unique ID: D000073882
Entry Terms:
- ATP Binding Cassette Transporter, Sub-Family A, Member 4
- ABCA4 Transporter
- Transporter, ABCA4
- Retinal-Specific ATP-Binding Cassette Transporter
- Retinal Specific ATP Binding Cassette Transporter
- Stargardt Disease Protein
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