ABCA4 Antibodies

Structure of ABCA4

ABCA4 is a large transmembrane protein with a molecular weight of approximately 250 kDa. The molecular weight of this protein remains highly conserved across different mammals, mainly due to the strict evolutionary constraints of its functional domain.

The ABCA4 protein contains approximately 2,273 amino acid residues, which form a typical modular architecture of alternating "transmembrane domains - nucleotide binding domains" through its primary structure. The three-dimensional structure of this protein presents hydrophobic channels composed of multiple transmembrane α -helices, among which two nucleotide binding domains provide transport impetus by hydrolyzing ATP. The Walker A motif located on the cytoplasmic side is responsible for binding ATP molecules, while the LSGGQ motif regulates the substrate transport process through allosteric effects, jointly completing the efficient transport of n-retina-phosphatidylethanolamine.

Fig. 1 ABCA4 molecular structure with the five most mutations from each cohort.¹

Key structural properties of ABCA4:

• Multi-domain transmembrane topological configuration
• Substrate transport channels mediated by hydrophobic chambers
• Mechanism of ATP hydrolysis driven by nucleotide binding domains

Functions of ABCA4

The core function of the ABCA4 protein is to mediate the transport of visual circulation products in the retinal pigment epithelium. However, this protein is also involved in a variety of cellular physiological processes, including maintaining lipid homeostasis and protecting against photo-oxidative damage.

The substrate transport of ABCA4 follows a typical alternating access model. Unlike the synergistic effect of hemoglobin, its individual transport units exhibit Michelson-type kinetic characteristics, which explains the protein's high affinity for specific retinal derivatives and its exclusive role in the visual cycle.

Applications of ABCA4 and ABCA4 Antibody in Literature

1. Cremers, Frans PM, et al. "Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations." Progress in retinal and eye research 79 (2020): 100861. https://doi.org/10.1016/j.preteyeres.2020.100861

The article indicates that mutations in the ABCA4 gene can cause various retinopathy types, including not only typical Stargardt disease but also other phenotypes such as cone and rod cell dystrophy. There are over 1,200 pathogenic mutations in this gene, covering a wide range of types. Relevant research has deepened the understanding of the complexity of genetic diseases. This article reviews its clinical manifestations, pathological mechanisms and treatment progress.

2. Wang, Liang, et al. "Updates on emerging interventions for autosomal recessive ABCA4-associated Stargardt disease." Journal of Clinical Medicine 12.19 (2023): 6229. https://doi.org/10.3390/jcm12196229

The article indicates that mutations in the ABCA4 gene cause Stargardt disease, and there is currently no effective treatment. This article reviews the latest clinical trial progress in the treatment of this disease, including gene therapy, small molecule drugs (such as ALK-001), and stem cell therapy, etc. Although multiple schemes have shown potential to delay the disease, their safety and effectiveness still need to be further verified.

3. Al-Khuzaei, Saoud, et al. "An overview of the genetics of ABCA4 retinopathies, an evolving story." Genes 12.8 (2021): 1241. https://doi.org/10.3390/genes12081241

The article indicates that mutations in the ABCA4 gene cause retinopathy such as Stargardt disease, and its diagnosis is difficult due to diverse phenotypes and complex variations. More than 2,000 pathogenic variations of this gene have been discovered, but some patients still have difficulty being diagnosed. With the development of targeted therapy, precise genetic diagnosis is becoming increasingly important. This article aims to update the latest progress in ABCA4 genotyping and therapeutic research.

4. Piotter, Elena, Michelle E. McClements, and Robert E. MacLaren. "The scope of pathogenic ABCA4 mutations targetable by CRISPR DNA base editing systems—a systematic review." Frontiers in Genetics 12 (2022): 814131. https://doi.org/10.3389/fgene.2021.814131

The article indicates that mutations in the ABCA4 gene cause Stargardt disease, and there is currently no treatment available. Given that there are over 1,200 pathogenic mutations in this gene, the research explored the therapeutic potential of gene editing technologies such as CRISPR-Cas. Analysis reveals that over half of the pathogenic mutations can theoretically be corrected through base editing, providing a new direction for the development of gene therapies targeting ABCA4.

5. Kim, Bo Min, et al. "Functional characterization of ABCA4 genetic variants related to Stargardt disease." Scientific Reports 12.1 (2022): 22282. https://doi.org/10.1038/s41598-022-26912-6

This study focuses on how variations in the ABCA4 gene affect protein expression and thereby trigger Stargardt disease. Studies have found that four missense variants can lead to protein degradation, while specific haplotypes in the promoter region can significantly alter transcriptional activity, a process regulated by GATA-2 and HLF transcription factors.

Creative Biolabs: ABCA4 Antibodies for Research

Creative Biolabs specializes in the production of high-quality ABCA4 antibodies for research and industrial applications. Our portfolio includes monoclonal antibodies tailored for ELISA, Flow Cytometry, Western blot, immunohistochemistry, and other diagnostic methodologies.

• Custom ABCA4 Antibody Development: Tailor-made solutions to meet specific research requirements.
• Bulk Production: Large-scale antibody manufacturing for industry partners.
• Technical Support: Expert consultation for protocol optimization and troubleshooting.
• Aliquoting Services: Conveniently sized aliquots for long-term storage and consistent experimental outcomes.

For more details on our ABCA4 antibodies, custom preparations, or technical support, contact us at email.