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ABCA4 Produkte

(ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 (ABCA4))
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008].

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Ausgewählte ABCA4 Kategorien

ABCA4 Antikörper

High quality antibodies with extensive validation data.

ABCA4 ELISA Kits

Reliable ELISA kits for a wide range of species.

ABCA4 Proteine

Proteins for various applications incl. WB, ELISA, IF etc.

Empfohlene ABCA4 Antikörper

Produkt
Reaktivität
Applikation
Validierungen
Kat. Nr.
Menge
Datenblatt
Reaktivität Human, Mouse
Applikation ELISA, IF
Validierungen
  • (3)
  • (4)
Kat. Nr. ABIN343052
Menge 100 μg
Datenblatt Datenblatt
Reaktivität Human
Applikation WB, ELISA, IHC (fro), ICC, IHC (p)
Validierungen
  • (2)
Kat. Nr. ABIN7441073
Menge 100 μL
Datenblatt Datenblatt
Reaktivität Human
Applikation ELISA, IHC
Validierungen
  • (2)
Kat. Nr. ABIN7238477
Menge 200 μL
Datenblatt Datenblatt

Empfohlene ABCA4 ELISA Kits

Produkt
Reaktivität
Analytical Method
Validierungen
Kat. Nr.
Menge
Datenblatt
Reaktivität Human
Analytical Method Quantitative Sandwich ELISA
Validierungen
  • (1)
Kat. Nr. ABIN6953969
Menge 96 tests
Datenblatt Datenblatt
Reaktivität Mouse
Analytical Method Quantitative Sandwich ELISA
Validierungen
  • (1)
Kat. Nr. ABIN6953970
Menge 96 tests
Datenblatt Datenblatt
Reaktivität Mouse
Analytical Method Sandwich ELISA
Validierungen
Kat. Nr. ABIN426752
Menge 96 tests
Datenblatt Datenblatt

Empfohlene ABCA4 Proteine

Produkt
Reaktivität
Source
Validierungen
Kat. Nr.
Menge
Datenblatt
Reaktivität Human
Source Wheat germ
Validierungen
  • (1)
Kat. Nr. ABIN1305427
Menge 10 μg
Datenblatt Datenblatt
Reaktivität Human
Source Escherichia coli (E. coli)
Validierungen
Kat. Nr. ABIN7407937
Menge 100 μg
Datenblatt Datenblatt

Neueste Publikationen zu unseren ABCA4 Produkten

McClements, Barnard, Issa, MacLaren: "Assessment of AAV Dual Vector Safety in theAbca4-/- Mouse Model of Stargardt Disease." in: Translational vision science & technology, Vol. 9, Issue 7, pp. 20, (2020) (PubMed).

Mäkeläinen, Gòdia, Hellsand, Viluma, Hahn, Makdoumi, Zeiss, Mellersh, Ricketts, Narfström, Hallböök, Ekesten, Andersson, Bergström: "An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease." in: PLoS genetics, Vol. 15, Issue 3, pp. e1007873, (2019) (PubMed).

McClements, Barnard, Singh, Charbel Issa, Jiang, Radu, MacLaren: "An AAV Dual Vector Strategy Ameliorates the Stargardt Phenotype in Adult Abca4-/- Mice." in: Human gene therapy, Vol. 30, Issue 5, pp. 590-600, (2019) (PubMed).

Lenis, Hu, Ng, Jiang, Sarfare, Lloyd, Esposito, Samuel, Jaworski, Bok, Finnemann, Radeke, Redmond, Travis, Radu: "Expression of ABCA4 in the retinal pigment epithelium and its implications for Stargardt macular degeneration." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 115, Issue 47, pp. E11120-E11127, (2019) (PubMed).

Allocca, Doria, Petrillo, Colella, Garcia-Hoyos, Gibbs, Kim, Maguire, Rex, Di Vicino, Cutillo, Sparrow, Williams, Bennett, Auricchio: "Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice." in: The Journal of clinical investigation, Vol. 118, Issue 5, pp. 1955-64, (2008) (PubMed).

Singh, Jalali, Hejtmancik, Kannabiran: "Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy." in: American journal of ophthalmology, Vol. 141, Issue 5, pp. 906-13, (2006) (PubMed).

Wiszniewski, Zaremba, Yatsenko, Jamrich, Wensel, Lewis, Lupski: "ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies." in: Human molecular genetics, Vol. 14, Issue 19, pp. 2769-78, (2005) (PubMed).

Illing, Molday, Molday: "The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily." in: The Journal of biological chemistry, Vol. 272, Issue 15, pp. 10303-10, (1997) (PubMed).

Synonyme und alternative Namen zu ABCA4

ATP binding cassette subfamily A member 4 (ABCA4), ATP-binding cassette, sub-family A (ABC1), member 4 (Abca4), ATP binding cassette subfamily A member 4 (Abca4), ATP binding cassette subfamily A member 4 (abca4), ATP binding cassette subfamily A member 4 L homeolog (abca4.L), ATP-binding cassette, sub-family A (ABC1), member 4a (abca4a), ABC10, Abc10, abc10, ABCR, Abcr, abcr, ARMD2, armd2, AW050280, CORD3, cord3, D430003I15Rik, FFM, ffm, RMP, RmP, rmp, RP19, rp19, STGD, stgd, STGD1, stgd1, zgc:91823

Bezeichner auf Proteinebene für ABCA4

  • ATP binding cassette transporter
  • ATP-binding cassette sub-family A member 4
  • ATP-binding cassette transporter, retinal-specific
  • ATP-binding transporter, retina-specific
  • RIM ABC transporter
  • RIM protein
  • photoreceptor rim protein
  • retina-specific ABC transporter
  • retinal-specific ATP-binding cassette transporter
  • stargardt disease protein
  • ATP-binding cassette 10
  • Rim protein
  • ATP-binding cassette, sub-family A (ABC1), member 4
  • ATP-binding cassette, sub-family A member 4
  • retinal-specific ATP transporter ABCA4
  • retinal-specific ATP-binding cassette transporter-like
  • ATP-binding cassette, sub-family A, member 4
  • retinal ABCA4 transporter
  • ATP-binding cassette, sub-family A (ABC1), member 4a
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