ATP Binding Cassette Transporter, Subfamily A, Member 4

Engelsk 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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

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