Anti-ABCA4 Rabbit Polyclonal Antibody
Product Information
Downloads & Supports
Target
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ABCA4
Host
Storage
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Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.
Clonality
Clone Number
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-
Isotype
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IgG
Reactivity
Application
Application Details
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IHC: 1/50-1/100
Immunogen
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Synthetic peptide of human ABCA4
Molecular Weight
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-
Formulation
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pH 7.4 PBS, 0.05% NaN3, 40% Glycerol
Form
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Liquid
Gene ID
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24
Uniprot ID
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P78363
Background
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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 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 essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2.
Research Area
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Neuroscience
Synonyms
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FFM; RMP; ABCR; RP19; STGD; ABC10; ARMD2; CORD3; STGD1