Anti-ABCA4 (Rim Protein)
人类, 小鼠, 牛
Anti-ABCA4 (Rim Protein)
ABCA4 (Rim Protein)
Retinal-specific ATP-binding cassette transporter; Retinal-specific ATP-binding cassette transporter; retinal-specific ATP-binding cassette transporter; Rim protein; RIM ABC transporter; ATP-binding cassette 10; ATP-binding cassette sub-family A member 4; ATP-binding cassette, sub-family A (ABC1), member 4; ATP-binding cassette sub-family A member 4; RIM ABC transporter
Abca4; Abca4; RmP; Abcr; Abc10; AW050280; D430003I15Rik; Abcr; RIM protein; RmP
牛, 人类, 小鼠, 蛙
Specific for ABCA4 protein in Western Blots of bovine, human, mouse and Xenopus tissues.
Protein G purified (Protein G purified culture supernatant)
100 ul in 10 mM HEPES (pH 7.5), 150 mM NaCl, 100 ug per ml BSA and 50% glycerol. Adequate amount of material to conduct 10-mini Western Blots.
Store at -20 degree C in undiluted aliquots; stable for up to one year after date of receipt. Avoid freeze/thaw cycles.
Quality Control: Western blots performed on each lot. WB: 1:1000. IHC: 1:100
Antigen: Partially purified bovine 220-kDa disc rim protein. Immunogen Information: Partially purified bovine 220-kDa disc rim protein. Immunogen Species: Bovine
Species Reactivity Note: The antibody has been directly tested for reactivity in bovine, human, mouse and Xenopus tissues. Biological Significance: ABCA4 (ATP-binding cassette, sub-family A (ABC1), member 4, Rim Protein) is a member of the superfamily of ATP-binding cassette (ABC) transporters (Illing et al., 1997). ABC proteins transport various molecules across extra- and intracellular membranes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essential molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and age-related macular degeneration (Wiszniewski et al., 2003). Defects in ABCA4 are the cause of Stargardt disease type 1 (STGD1) (Molday et al., 2000). STGD is one of the most frequent causes of macular degeneration in childhood. Defects in ABCA4 are also known to cause fundus flavimaculatus (FFM), age-related macular degeneration type 2 (ARMD2) and cone-rod dystrophy type 3 (CORD3) (Klevering et al., 2005).
Michelle Illing, Laurie L. Molday and Robert S. Molday. The 220-kDa Rim Protein of Retinal Rod Outer Segments Is a Member of the ABC Transporter Superfamily. J. Biol. Chem., (1997) Vol 272 (15) I April 11. 10303-10310. Klevering BJ, Deutman AF, Maugeri A, Cremers FP, Hoyng CB (2005) The spectrum of retinal phenotypes casued by mutations in the ABCA4 gene. Graefes Arch Clin Exp Ophthalmol. 243(2):90-100. Molday, L. et al., ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nature Genetics (2000) 25, 257 - 258. Wiszniewski, W. et al., ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. Human Molecular Genetics (2005) 14(19):2769-2778.
NCBI GI登录号 :
ABC Transporters Pathway (83232); ABC Transporters Pathway (436); ABC-family Proteins Mediated Transport Pathway (926169); Disease Pathway (926229); Diseases Associated With Visual Transduction Pathway (926305); Signal Transduction Pathway (926897); The Canonical Retinoid Cycle In Rods (twilight Vision) Pathway (926310); Transmembrane Transport Of Small Molecules Pathway (926168); Visual Phototransduction Pathway (926308)
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein was the first of the ABC transporters to be observed in photoreceptors and may play a role in the photoresponse. Mutations in the human gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
Function: 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 . By similarity. Subcellular location: Membrane; Multi-pass membrane protein . By similarity. Note: Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor . By similarity. Tissue specificity: Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells. Disruption phenotype: Delayed dark adaptation but normal final rod threshold. Ref.3. Sequence similarities: Belongs to the ABC transporter superfamily. ABCA family.Contains 2 ABC transporter domains.
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San Diego, CA 92195-3308
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