ABCA4 Produits
(ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 (ABCA4))
Catégories
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
: "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).: "An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease." dans: PLoS genetics, Vol. 15, Issue 3, pp. e1007873, (2019) (PubMed).
: "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).
: "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).
: "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).
: "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).
: "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).
: "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:91823Protein 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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