Preferred Label : ATP Binding Cassette Transporter, Subfamily A, Member 4;
MeSH 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.;
MeSH synonym : Retinal-Specific ATP-Binding Cassette Transporter; Retinal Specific ATP Binding Cassette Transporter; Stargardt Disease Protein; ABCA4 Transporter; Transporter, ABCA4; ATP Binding Cassette Transporter, Sub-Family A, Member 4;
Origin ID : D000073882;
UMLS CUI : C4505141;
Allowable qualifiers
Record concept(s)
Semantic type(s)
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.