Human ABCA4 (Retinal-specific ATP-binding cassette transporter) ELISA KIT (HUFI05426)

Supporting quantitative measurement of ABCA4, this Assay Genie kit is a valuable tool for vision researchers exploring inherited retinal dystrophies and photoreceptor biology. ABCA4, also known as ABCR or STGD1, is a large ATP-binding cassette transporter localized to the disc membranes of rod and cone photoreceptors. It mediates the ATP-dependent translocation of N-retinylidene-phosphatidylethanolamine across the outer segment membrane, a key step in the visual cycle that clears all-trans-retinal from the disc lumen. Loss-of-function mutations in the ABCA4 gene are the most common cause of autosomal recessive Stargardt disease and contribute to cone-rod dystrophy, retinitis pigmentosa, and certain forms of age-related macular degeneration.

The kit enables biomarker investigations, genotype-phenotype correlation studies, and validation of cell and animal models. Reagents should be stored at 4 degrees C and the microplate-based immunoassay is intended for research use only, not for clinical diagnostic applications.