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ABCA4 Produits

(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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Catégories ABCA4 en vedette

ABCA4 Anticorps

High quality antibodies with extensive validation data.

ABCA4 Kits ELISA

Reliable ELISA kits for a wide range of species.

ABCA4 Protéines

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

ABCA4 recommandé Anticorps

Produit
Reactivity
Application
Validations
N° du produit
Quantité
Fiche technique
Reactivity Human, Mouse
Application ELISA, IF
Validations
  • (3)
  • (4)
N° du produit ABIN343052
Quantité 100 μg
Fiche technique Fiche technique
Reactivity Human
Application WB, ELISA, IHC (fro), ICC, IHC (p)
Validations
  • (2)
N° du produit ABIN7441073
Quantité 100 μL
Fiche technique Fiche technique
Reactivity Human
Application ELISA, IHC
Validations
  • (2)
N° du produit ABIN7238477
Quantité 200 μL
Fiche technique Fiche technique

ABCA4 recommandé Kits ELISA

Produit
Reactivity
Analytical Method
Validations
N° du produit
Quantité
Fiche technique
Reactivity Human
Analytical Method Quantitative Sandwich ELISA
Validations
  • (1)
N° du produit ABIN6953969
Quantité 96 tests
Fiche technique Fiche technique
Reactivity Mouse
Analytical Method Quantitative Sandwich ELISA
Validations
  • (1)
N° du produit ABIN6953970
Quantité 96 tests
Fiche technique Fiche technique
Reactivity Mouse
Analytical Method Sandwich ELISA
Validations
N° du produit ABIN426752
Quantité 96 tests
Fiche technique Fiche technique

ABCA4 recommandé Protéines

Produit
Reactivity
Source
Validations
N° du produit
Quantité
Fiche technique
Reactivity Human
Source Wheat germ
Validations
  • (1)
N° du produit ABIN1305427
Quantité 10 μg
Fiche technique Fiche technique
Reactivity Human
Source Escherichia coli (E. coli)
Validations
N° du produit ABIN7407937
Quantité 100 μg
Fiche technique Fiche technique

Dernières publications sur nos produits ABCA4

McClements, Barnard, Issa, MacLaren: "Assessment of AAV Dual Vector Safety in theAbca4-/- Mouse Model of Stargardt Disease." dans: 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." dans: 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." dans: 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." dans: 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." dans: 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." dans: 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." dans: 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." dans: The Journal of biological chemistry, Vol. 272, Issue 15, pp. 10303-10, (1997) (PubMed).

Synonymes et noms alternatifs relatifs à 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

Protein level used designations for 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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