Catalog No.
YHF65801
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Gly1398-Asn1727
Predicted molecular weight
39.17 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
P78363
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
RIM protein, Stargardt disease protein, Retinal-specific ATP-binding cassette transporter, RIM ABC transporter, ATP-binding cassette sub-family A member 4, ABCA4, RmP, ABCR, Retinal-specific phospholipid-transporting ATPase ABCA4
Pathonign variants in recessive disorders: How extremely hypomorphic variants can be pathogenic and benign depending on the allele in trans., PMID:40485886
Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy., PMID:40465261
Longitudinal scRNA-seq of retinal organoids derived from Stargardt disease patient with ABCA4 mutation., PMID:40425564
Multimodal imaging in autosomal recessive Stargardt's disease., PMID:40355273
Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa., PMID:40296824
Progression of Atrophy as a Function of ABCA4 Variants and Age of Onset in Stargardt Disease., PMID:40293396
Generation of a compound heterozygous ABCA4 rat model with pathological features of STGD1., PMID:40273359
Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies., PMID:40269797
Clinical and Genetic Characteristics of 18 Patients from Southeast China with ABCA4-Associated Stargardt Disease., PMID:40244202
Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome., PMID:40232708
[Pharmacotherapy of ABCA4-associated Retinal Dystrophies]., PMID:40127654
A synthetic opsin restores vision in patients with severe retinal degeneration., PMID:40121528
Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study., PMID:40101946
Quantifying the Progression of Stargardt Disease in Double-Null ABCA4 Carriers Using Fundus Autofluorescence Imaging., PMID:40094701
Integrated Analysis of WES and scRNA-Seq Data Reveals the Genetic Basis of Immune Dysregulation in Unexplained Recurrent Pregnancy Loss., PMID:40066928
Whole-exome sequencing identifies EP300 variants associated with visceral leishmaniasis relapse., PMID:40020829
Retinal thickness and visual acuity in early-onset Stargardt disease follow a non-linear progression curve: implications for clinical trials., PMID:40000365
Exposure of A2E to blue light promotes ferroptosis in the retinal pigment epithelium., PMID:39984833
Unravelling genotype-phenotype correlations in Stargardt disease using patient-derived retinal organoids., PMID:39971915
WDR19-associated retinopathy presenting with adult-onset Stargardt-like phenotype., PMID:39967245
Sustained release of a novel non-fibrate PPARα agonist from microparticles for neuroprotection in murine models of age-related macular degeneration., PMID:39961437
Improving personalised genetic counselling for ABCA4 -associated retinopathy: Updated recurrence risk estimates., PMID:39943985
Proposing Zebrafish as a Model for Stargardt Disease., PMID:39930199
Exploring the Role of ABCA4's ECD2 Domain in Inherited Retinal Degeneration: Computational and Functional Perspectives., PMID:39930175
Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects., PMID:39930174
ABCA4 c.5461-6T>C Causes Stargardt Disease Through Exon Skipping., PMID:39930173
ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype., PMID:39883546
Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease., PMID:39838063
High-efficiency base editing in the retina in primates and human tissues., PMID:39779923
Quercetin Alleviates All-Trans-Retinal-Induced Photoreceptor Apoptosis and Retinal Degeneration by Inhibiting the ER Stress-Related PERK Signaling., PMID:39769385
Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 Allele., PMID:39766771
Interruption of the visual cycle in a novel animal model induces progressive vision loss resembling Stargardts Disease., PMID:39730605
CHOROIDAL HYPERREFLECTIVE FOCI AS BIOMARKERS OF SEVERITY IN STARGARDT DISEASE., PMID:39661867
Inhibition of JNK signaling attenuates photoreceptor ferroptosis caused by all-trans-retinal., PMID:39643129
Abca4, mutated in Stargardt disease, is required for structural integrity of cone outer segments., PMID:39610324
Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease., PMID:39596324
Investigating Microperimetric Features in Bietti Crystalline Dystrophy Patients: A Cross-Sectional Longitudinal Study in a Large Cohort., PMID:39540859
Identification of genetic fingerprint of type I interferon therapy in visceral metastases of melanoma., PMID:39489756
Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants., PMID:39365799
Exonic splice variant discovery using in vitro models of inherited retinal disease., PMID:39354715
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants., PMID:39333430
Virus-like particles as robust tools for functional assessment: Deciphering the pathogenicity of ABCA4 genetic variants of uncertain significance., PMID:39222682
Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population., PMID:39202371
Emerging Therapeutic Approaches and Genetic Insights in Stargardt Disease: A Comprehensive Review., PMID:39201545
Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants., PMID:39162841
Structural and functional characterization of the nucleotide-binding domains of ABCA4 and their role in Stargardt disease., PMID:39128720
Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies., PMID:39087934
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes., PMID:39062705
Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance., PMID:39043154
Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy., PMID:38892127
For research use only. Not for human or drug use.
