Stargardt Disease

Stargardt disease (STGD) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4. Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features of STGD1, and also the underlying pathophysiology, which has culminated in ongoing and planned human clinical trials of novel therapies.(1) Mutations in four genes have been linked with Stargardt disease: ABCA4, ELOVL4, PROM1, CNGB3.

ABCA4 Antibody cited in Stargardt Disease Gene Therapy Article

McClements et al. investigate use of dual vector approach for AAV Gene Therapy of Stargardt disease.

anti-ABCA4 antibody (ABIN343052) cited in Human Gene Therapy Vol. 30, No. 5. (2019)

Important Targets related to Stargardt disease

The following targets are directly related to research on Stargardt disease. Click on the links to see available antibodies, kits, proteins, and tools.

ABCA4 Antibodies

Autosomal recessive retinal diseases caused by mutations in the ABCA4 gene are being considered for gene replacement therapy. All individuals with ABCA4-disease show macular degeneration.(2)

Product Reactivity Clonality Application Cat. No. Quantity Relevance ProductGrid: uniqueid
anti-ABCA4 antibody (ATP-Binding Cassette, Sub-Family A (ABC1), Member 4) Cow Monoclonal IHC, WB ABIN361347 100 μL element-ABIN361347
anti-ABCA4 antibody (ATP-Binding Cassette, Sub-Family A (ABC1), Member 4) (AA 2250-2263) Human Polyclonal ELISA, WB ABIN343052 100 μg element-ABIN343052

ELOVL4 Antibodies

Autosomal dominant Stargardt macular dystrophy caused by mutations in the Elongation of Very Long Chain fatty acids (ELOVL4) gene results in macular degeneration, leading to early childhood blindness.(3)

PROM1 Antibodies

Prominin-1 (Prom1) is a transmembrane glycoprotein, which is expressed in stem cell lineages, and has recently been implicated in cancer stem cell survival. Mutations in the Prom1 gene have been shown to disrupt photoreceptor disk morphogenesis and cause an autosomal dominant form of Stargardt-like macular dystrophy (STGD4).(4)

Product Reactivity Clonality Application Cat. No. Quantity Relevance ProductGrid: uniqueid
anti-CD133 antibody (Prominin 1) Human Monoclonal FACS, ICC, WB ABIN6559815 0.1 mg element-ABIN6559815

We offer custom Made-to-order Proteins

We support you with high-purity made-to-order proteins with native state folding guarantee. Please contact us via email, chat, or phone for more information.

Product Protein Type Conjugate Cat. No. Quantity Relevance ProductGrid: uniqueid
ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 (ABCA4) (AA 1895-2273) protein (His tag) Recombinant His tag ABIN3087964 1 mg element-ABIN3087964
Crumbs Homolog 1 (Drosophila) (CRB1) (AA 28-1339) protein (His tag) Recombinant His tag ABIN3136754 1 mg element-ABIN3136754
Cyclic Nucleotide Gated Channel beta 3 (CNGB3) (AA 526-809) protein (His tag) Recombinant His tag ABIN3077722 1 mg element-ABIN3077722
ELOVL Fatty Acid Elongase 4 (ELOVL4) (AA 1-314) protein (rho-1D4 tag) Recombinant rho-1D4 tag ABIN3092348 0.5 mg element-ABIN3092348
Peripherin 2 (Retinal Degeneration, Slow) (PRPH2) (AA 124-264) protein (His tag) Recombinant His tag ABIN3086478 1 mg element-ABIN3086478
Potassium Channel, Subfamily V, Member 2 (KCNV2) (AA 1-155) protein (His tag) Recombinant His tag ABIN3082621 1 mg element-ABIN3082621

antibodies-online.com: Making the Complex Convenient

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References:

(1) Tanna P, Strauss RW, Fujinami K, Michaelides M. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol. 2017 Jan;101(1):25-30. doi: 10.1136/bjophthalmol-2016-308823. Epub 2016 Aug 4. PMID: 27491360; PMCID: PMC5256119.

(2) Cideciyan AV, Swider M, Aleman TS, Tsybovsky Y, Schwartz SB, Windsor EA, Roman AJ, Sumaroka A, Steinberg JD, Jacobson SG, Stone EM, Palczewski K. ABCA4 disease progression and a proposed strategy for gene therapy. Hum Mol Genet. 2009 Mar 1;18(5):931-41. doi: 10.1093/hmg/ddn421. Epub 2008 Dec 12. PMID: 19074458; PMCID: PMC2640207.

(3) Agbaga MP, Tam BM, Wong JS, Yang LL, Anderson RE, Moritz OL. Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks. Invest Ophthalmol Vis Sci. 2014 May 15;55(6):3669-80. doi: 10.1167/iovs.13-13099.

(4) Bhattacharya S, Yin J, Winborn CS, Zhang Q, Yue J, Chaum E. Prominin-1 Is a Novel Regulator of Autophagy in the Human Retinal Pigment Epithelium. Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2366-2387. doi: 10.1167/iovs.16-21162.