- Catalog number
- PA2065
- Size / count
- 100 µg/Vial
- Dry ice
- No
- Hazardous
- No
- Discontinued
- No
- Background
- ABCA4 (ATP-Binding Cassette, Subfamily A, Member 4), also known as ABCR, is a protein which in humans is encoded by the ABCA4 gene. ABCA4 is a member of the ATP-binding cassette transporter gene sub-family A (ABC1) found exclusively in multicellular eukaryotes. Using a whole genome radiation hybrid panel, Allikmets et al. (1997) mapped the ABCR gene to 1p21-p13. Allikmets et al. (1997) localized ABCR transcripts exclusively within photoreceptor cells, indicating that ABCR mediates the transport of an essential molecule (or ion) either into or out of photoreceptor cells. Molday et al. (2000) showed by immunofluorescence microscopy and Western blot analysis that ABCR is present in foveal and peripheral cone, as well as rod, photoreceptors. The results suggested that the loss in central vision experienced by patients with Stargardt macular dystrophy arises ly from ABCR-mediated foveal cone degeneration.
- Synonyms
- Retinal-specific ATP-binding cassette transporter; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Stargardt disease protein; ABCA4; ABCR
- Gene Name
- ABCA4
- Gene ID
- 24
- UniProt
- P78363
- Host
- Rabbit
- Reactivity
- Human
- Cross Reactivity
- No cross-reactivity with other proteins
- Immunogen
- A synthetic peptide corresponding to a sequence at the C-terminus of human ABCA4.
- Clonality
- Polyclonal
- Tissue Specificity
- Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.
- Applications
- WB
- Field of Research
- Neuroscience, Sensory System, Visual System
- Purification
- Immunogen affinity purified.
- Concentration
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Form
- Lyophilized
- Reconstitution
- Add 0.2ml of distilled water will yield a concentration of 500ug/ml.
- Function
- In the visual cycle, acts as an inward-ed 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. .
- References & Citations
- 1. Allikmets, R., Shroyer, N. F., Singh, N., Seddon, J. M., Lewis, R. A., Bernstein, P. S., Peiffer, A., Zabriskie, N. A., Hutchinson, A., Dean, M., Lupski, J. R., Leppert, M. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277: 1805-1807, 1997. 2. Allikmets, R., Singh, N., Sun, H., Shroyer, N. F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., Rattner, A., Smallwood, P., Li, Y., Anderson, K. L., Lewis, R. A., Nathans, J., Leppert, M., Dean, M., Lupski, J. R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet. 15: 236-246, 1997. Note: Erratum: Nature Genet. 17:122 only, 1997. 3. Molday, L. L., Rabin, A. R., Molday, R. S. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nature Genet. 25: 257-258, 2000.
- Storage Conditions
- Store at -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freeze-thaw cycles.
- Calculated Molecular Weight
- 255944 MW
- Observed Molecular Weight
- 92 kDa
- Specificity
- No cross reactivity with other proteins.
- Gene Name Synonym
- Retinal-specific ATP-binding cassette transporter
- Subcellular Location
- Membrane ; Multi-pass membrane protein . Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.
- Sequence Similarities
- Belongs to the ABC transporter superfamily. ABCA family.
- Protein Name
- Retinal-specific ATP-binding cassette transporter
- Isotype
- Rabbit IgG
- Contents
- Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3.
