Analytical Data
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Gene name
ABCA4
- Application
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Alternative Names
ABCA4；ABCR；Retinal-specific phospholipid-transporting ATPase ABCA4
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Species
Human
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Source
E. coli
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Tag
His tag N-Terminus
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Purity
Greater than 90% as determined by SDS-PAGE.
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Uniprot
P78363
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Expression Region
2174-2273aa
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AA Sequence
PKDDLLPDLNPVEQFFQGNFPGSVQRERHYNMLQFQVSSSSLARIFQLLL SHKDSLLIEEYSVTQTTLDQVFVNFAKQQTESHDLPLHPRAAGASRQAQD
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Molecular Weight
37 kDa
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Endotoxin
< 1.0 EU per μg protein as determined by the LAL method.
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Form
Freeze-dried powder
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Buffer formulation
PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300.
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Reconstitution
Reconstitute in ddH2O to a concentration of 0.1-0.5 mg/mL. Do not vortex.
- Customization
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Stability Test
The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37℃ for 48h, and no obvious degradation and precipitation were observed. The loss rate isless than 8% within the expiration date under appropriate storage condition.
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Storage & Shelf Life
Samples are stable for up to twelve months from date of receipt at -20℃ to -80℃. Store it under sterile conditions at -20℃ to -80℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
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Shipping
In general, recombinant proteins are supplied as lyophilized powder and shipped at ambient temperature. For bulk packages, the proteins are provided as frozen liquid and shipped with blue ice, unless otherwise requested by the customer.
Quality inspection process
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Protein Description
ABCA4 is a member of the ATP-binding cassette (ABC) transporter family, predominantly expressed in the retinal pigment epithelium and photoreceptor cells, where it plays a crucial role in the visual cycle. Mutations in the ABCA4 gene are linked to several severe retinal diseases, including Stargardt disease and age-related macular degeneration, leading to progressive vision loss. The ABCA4 protein is responsible for the clearance of toxic byproducts generated during phototransduction, particularly the removal of all-trans-retinal, which, if accumulated, can cause retinopathy. Given its vital function in maintaining retinal health, understanding the structure and function of ABCA4 at the molecular level is critical for developing targeted therapies for retinal diseases. Researchers are focusing on the recombinant expression and functional characterization of ABCA4 to elucidate its transport mechanisms and the impact of specific mutations on its activity. By employing techniques such as cryo-electron microscopy and site-directed mutagenesis, scientists aim to map the transport pathway and identify potential therapeutic targets. This fundamental research not only sheds light on the biochemistry of ABCA4 but also on how alterations in its function contribute to the pathogenesis of retinal disorders, paving the way for innovative treatments that could restore vision in affected individuals.
