ABCA4 (ABCR, RMP, RP19, STGD, STGD1, ARMD2, CORD3, FFM, Stargardt disease, RIM ABC transporter, ATP-binding cassette transporter, retinal-specific)

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 directly from ABCR-mediated foveal cone degeneration.\n\nUniProt Number:\nP78363\n\nGene ID:\nABCA4\n\nApplications:\nSuitable for use in Western Blot.\n\nRecommended Dilution:\nOptimal dilutions to be determined by the researcher.\n\nStorage and Handling:\nStore at -20?C for one year. After reconstitution, store at 4?C for one month. Can also be aliquoted and stored frozen at -20?C for long term.\nAvoid repeated freezing and thawing. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Prices direct from United States Biological

Quick response times

Exclusive Biosave savings/discounts

SPECIFICATIONS

Catalog Number

144101

Size

100ug

Applications

WB

Hosts

Rabbit

Reactivities

Hum

Form

Supplied as a lyophilized powder. Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3. Reconstitution: Add 0.2ml of distilled water will yield a concentration of 500ug/ml.

P Type

Pab

Purity

Purified by immunoaffinity chromatography.

Isotype

IgG

References

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.\n2. 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.\n3. 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.

Additional Info

Recognizes human ABCA4. No crossreactivity with other proteins.