Retinal-Specific Phospholipid-Transporting ATPase ABCA4

Preferred Label : Retinal-Specific Phospholipid-Transporting ATPase ABCA4;

NCIt synonyms : ATP Binding Cassette Subfamily A Member 4; RIM ABC Transporter; Retinal-Specific ATP-Binding Cassette Transporter; Stargardt Disease Protein; RmP; ABCA4; RIM Protein; EC 7.6.2.1; ATP-Binding Cassette Sub-Family A Member 4; Photoreceptor RIM Protein;

NCIt definition : Retinal-specific phospholipid-transporting ATPase ABCA4 (2273 aa, 256 kDa) is encoded by the human ABCA4 gene. This protein is involved in ATP-dependent transport of retinal-phosphatidylethanolamine conjugates from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk membranes.;

Détails

Origin ID

C213798;

OMIM relation
- Atp-binding cassette, subfamily a, member 4 [OMIM gene]
gene_encodes_gene_product
- ABCA4 Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- Translocase Gene [NCIt concept]
- Transport Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
- Membrane of the Endoplasmic Reticulum [NCIt concept]
- Outer Segment of the Photoreceptor Cell [NCIt concept]
- Rod Outer Segment [NCIt concept]
gene_product_has_biochemical_function
- ATPase [NCIt concept]
- Permease [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_is_element_in_pathway
- ABC Transporter Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- ATP Hydrolysis [NCIt concept]
- Drug Efflux [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Lipid Transport [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Sight [NCIt concept]
- Transport Process [NCIt concept]
- Visual Perception [NCIt concept]

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