Mouse Anti-ABCA4 Recombinant Antibody (V2-178913) (CBMAB-A0148-YC)

ATP Binding Cassette Subfamily A Member 4

ABCA4 belongs to the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multi

ATP Binding Cassette Subfamily A Member 4; ATP-Binding Cassette, Sub-Family A (ABC1), Member 4; ATP-Binding Cassette Transporter, Retinal-Specific; ATP-Binding Cassette Sub-Family A Member 4; Stargardt Disease Protein; RIM ABC Transporter; RIM Protein; AB

Catalyzes the translocation of specific phospholipids from the extracellular/lumenal to the cytoplasmic leaflet of membrane coupled to the hydrolysis of ATP. Transports preferentially phosphatidylethanolamine. In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery.

Lipid transport
Phospholipid transfer to membrane
Phospholipid translocation
Photoreceptor cell maintenance
Phototransduction, visible light
Retinoid metabolic process
Transmembrane transport
Visual perception

Endoplasmic reticulum; Membrane. Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.

A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.
Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course.
A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP19 is characterized by choroidal atrophy.

Cytoplasmic: 1-21 aa
Helical: 22-42 aa
Extracellular: 43-646 aa
Helical: 647-856 aa
Cytoplasmic: 857-1376 aa
Helical: 1377-1397 aa
Extracellular: 1398-1727 aa
Helical: 1728-1894 aa
Cytoplasmic: 1895-2273 aa