ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 Proteine (ABCA4)

The membrane-associated protein encoded by ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) transporters. Zusätzlich bieten wir Ihnen ABCA4 Antikörper (71) und ABCA4 Kits (8) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
ABCA4 24 P78363
ABCA4 11304 O35600
Ratte ABCA4 ABCA4 310836  
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Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 50 Days
Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 50 Days
Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage
Escherichia coli (E. coli) Human Unkonjugiert SDS-PAGE analysis of Human ABCA4 Protein. 100 μg Anmelden zum Anzeigen 11 bis 18 Tage

ABCA4 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human , ,
, ,
Mouse (Murine)

Weitere Proteine zu ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 (ABCA4) Interaktionspartnern

Human ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 (ABCA4) Interaktionspartner

  1. A significant fraction of genetically unexplained STGD1 cases carries p.Asn1868Ile as a second variant. Our findings suggest exceptional differences in disease expression or even nonpenetrance of this ABCA4 variant, pointing toward an important role for genetic or environmental modifiers in STGD1.

  2. These studies corroborate RPE melanin as the major source of NIR-AF but also indicate that bisretinoid lipofuscin, when present at sufficient concentrations, contributes to the NIR-AF signal. Ocular melanin attenuates the SW-AF signal.

  3. the expression and residual activity of ABCA4 mutants play a major role in determining the disease severity of STGD1 patients.

  4. Novel ABCA4 gene mutations were found in Korean patients with STGD1. This study will facilitate better understanding of the relationships between ABCA4 gene mutations and clinical symptoms in Korean patients.

  5. neighboring deep-intronic ABCA4 variants (c.4539+2001G>A and c.4539+2028C>T) result in a retina-specific 345-nt pseudoexon insertion.

  6. Two intronic variants c.4773+3A>G and c.5461-10T>C, both predicted to affect splicing, are indeed disease-causing mutations due to skipping of exons 33, 34, 39 and 40 of ABCA4 gene. The experimental proof that ABCA4 mutations in STGD patients affect protein function is crucial for their inclusion to future clinical trials.

  7. The study broadens the spectrum of ABCA4 mutations with 60 likely pathogenic or pathogenic variants, all associated with Stargardt disease.

  8. Full-field electroretinography is a predictor of the natural course of ABCA4-associated retinal degeneration.

  9. Next-generation sequencing was effective for the molecular diagnosis of genetic diseases and specifically allowed a conclusive diagnosis in 80% (40/50) of the patients. As the ABCA4 gene does not show a preferential region for pathogenic variants, the diagnosis of Stargardt disease depends on broader analysis of the gene. The most common pathogenic variants in the ABCA4 gene described in the literature were also found.

  10. The results indicate that the p.Ala1773Val mutation in ABCA4 is associated with a severe retinal phenotype and thus, could be classified as null.

  11. The ROC phenotype is a unique classification of ABCA4 disease, which is caused by deleterious null biallelic ABCA4 mutations and is characterized by the rapid deterioration of retinal pigment epithelium and photoreceptor layers in the macula and significant choroidal thinning within the first 2 decades of life.

  12. ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

  13. These findings expand the mutation spectrums of ABCA4 and LRP5, and will be valuable for genetic counseling and development of therapeutic interventions for patients with Familial exudative vitreoretinopathy.

  14. Our analyses allowed us to classify novel variants in ABCA4 as being clearly loss-of-function mutations, and thus pathogenic variants.

  15. High prevalence of p.L541P, p.A1038V, and p.G1961E mutations of the ABCA4 gene has been established in patients with Stargardt disease by performing massive parallel sequencing of all coding regions of the ABCA4 gene.

  16. Two novel pathogenic ABCA4 mutations were identified in Chinese families with Stargardt disease.

  17. We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene.

  18. Studies indicate that variants in ABCA4 are associated with a wide variety of inherited retinal diseases.

  19. Segregation analysis is important in order to confirm the molecular diagnosis of patients with Stargardt disease, given the frequency of complex alleles in the ABCA4 gene. The various pathogenic variation combinations observed in this study were associated with different phenotypes.

  20. The histopathology of the retina in this patient with Stargardt disease displayed a highly degenerated fovea. In all retinal locations studied, cones were more severely affected than rods.

Mouse (Murine) ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 (ABCA4) Interaktionspartner

  1. ABCA4 functions to recycle retinaldehyde released during proteolysis of rhodopsin in retinal pigment epithelium endolysosomes following daily phagocytosis of distal photoreceptor OS. ABCA4 deficiency in the retinal pigment epithelium may play a role in the pathogenesis of Recessive Stargardt disease 1.

  2. we show that the p.Asn965Ser ABCA4 variant expresses at half the level of WT ABCA4, partially mislocalizes to the endoplasmic reticulum (ER) of photoreceptors, is devoid of N-Ret-PE activated ATPase activity, and causes an increase in autofluorescence and the bisretinoid A2E associated with lipofuscin deposits in retinal pigment epithelial cells as found in Stargardt patients and Abca4 knockout mice.

  3. a comprehensive analysis using RNA-seq identified important roles of the acute stress response in the degenerating retina of Abca4-/-Rdh8-/- mice that are predisposed to retinal degeneration under light stress.

  4. Data indicate that knocking out the ATP-binding cassette transporter Abca4 gene correlated with an increase in all orange pigments.

  5. The viral oncoprotein HBx of Hepatitis B virus promotes the growth of hepatocellular carcinoma through cooperating with the cellular oncoprotein RMP.

  6. Despite pronounced lipofuscin accumulation in the retinal pigment epithelium of Abca4(-/-) mice, ERG and histology showed a slow age-related thinning of the photoreceptor layer similar to wild type controls up to 12 months.

  7. Abca4-deficient mice accumulate more of the toxic bisretinoid A2E than their ABCA4-competent counterparts which contribute to primary cone toxicity and may be associated with macular vision loss

  8. Mutations known to cause Stargardt disease decrease N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine transport activity of ABCA4

  9. The physiological role of Abca4 may include the translocation of 11-cis-retinal complexes across the disk membrane

  10. Upregulation of Abca4 in the liver is a tissue-specific compensatory consequence of the 'knock-out' of Abcc6 in mice.

  11. Abcr (-/-) mice exhibit progressive photoreceptor cell loss that is detectable at 8 months of age and that has worsened by 11 and 13 months of age.

  12. In 2-month-old Abca4-/- mice, A2E was found in the center of the retinal pigment epithelial tissue; with age, A2E increased across the tissue

  13. A long wavelength fluorescence emission intrinsic to abca4(-/-) retinal explants is shown to emanate from A2PE-H(2).

  14. Studies in mice suggest thet vitamin A supplementation should be avoided in patients with ABCA4 mutations or other retinal or macular dystrophies associated with lipofuscin accumulation in the retinal pigment epithelium.

  15. mice lacking both the ATP-binding cassette transporter 4 (Abca4) and enzyme retinol dehydrogenase 8 (Rdh8), proteins critical for all-trans-retinal clearance from photoreceptors, developed severe RPE/photoreceptor dystrophy at an early age

Cow (Bovine) ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 (ABCA4) Interaktionspartner

  1. ABCA4 can transport N-11-cis-retinylidene-phosphatidylethanolamine (PE), the Schiff-base conjugate of 11-cis-retinal and PE, from the lumen to the cytoplasmic leaflet of disk membranes.

  2. An 18 A-resolution structure of ABCA4 isolated from bovine rod outer segments was determined using electron microscopy and single-particle reconstruction

  3. partial dephosphorylation of native bovine ABCA4 led to reduction of both basal and stimulated ATPase activity. Thus, we present the first evidence that phosphorylation of ABCA4 can regulate its function

  4. results indicate that ATP binding cassette protein ABCA4 preferentially binds N-retinylidene-phosphatidylethanolamine with high affinity

Xenopus laevis ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 (ABCA4) Interaktionspartner

  1. Evolutionary alterations may increase the retinoid metabolite recycling capacity of ABCA4 and may improve dark adaptation.

ABCA4 Protein Überblick

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit 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 Protein
  • abcr Protein
  • armd2 Protein
  • AW050280 Protein
  • cord3 Protein
  • D430003I15Rik Protein
  • ffm Protein
  • rmp Protein
  • rp19 Protein
  • stgd Protein
  • stgd1 Protein
  • zgc:91823 Protein

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

24 Homo sapiens
11304 Mus musculus
281584 Bos taurus
310836 Rattus norvegicus
424490 Gallus gallus
444852 Canis lupus familiaris
496442 Xenopus (Silurana) tropicalis
745972 Pan troglodytes
100393904 Callithrix jacchus
100440877 Pongo abelii
100479076 Ailuropoda melanoleuca
497268 Xenopus laevis
100605850 Nomascus leucogenys
100725431 Cavia porcellus
100058746 Equus caballus
798993 Danio rerio
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