Anti-ABCA4

0.5mg/ml if reconstituted with 0.2ml sterile DI water. ATP-Binding Cassette, Subfamily A, Member 4, also known as ABCR, is a protein which in humans is encoded by the ABCA4 gene. It 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 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. Protein function: Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like the 11- cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk membranes, where N-cis-retinylidene- phosphatidylethanolamine (N-cis-R-PE) is then isomerized to its all- trans isomer (N-trans-R-PE) and reduced by RDH8 to produce all-trans- retinol (all-trans-rol) and therefore prevents the accumulation of excess of 11-cis-retinal and its schiff-base conjugate and the formation of toxic bisretinoid (PubMed:10852960, PubMed:10412977, PubMed:22735453). Displays both ATPase and GTPase activity that is strongly influenced by the lipid environment and the presence of retinoid compounds. Binds the unprotonated form of N- retinylidene-phosphatidylethanolamine with high affinity in the absence of ATP and ATP binding and hydrolysis induce a protein conformational change that causes the dissociation of N-retinylidene- phosphatidylethanolamine. [The UniProt Consortium]