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 (67) 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  
Direkt bei antikoerper-online bestellen
  • +1 877 302 8632
  • +1 888 205 9894 (toll-free)
  • Online bestellen
  • orders@antikoerper-online.de

Top ABCA4 Proteine auf antikoerper-online.de

Showing 4 out of 11 products:

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
$6,869.04
Details
Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 50 Days
$6,869.04
Details
Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage
$414.29
Details
Escherichia coli (E. coli) Human Unkonjugiert SDS-PAGE analysis of Human ABCA4 Protein. 100 μg Anmelden zum Anzeigen 11 bis 18 Tage
$625.39
Details

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. 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.

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

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

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

  5. 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.

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

  7. 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.

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

  9. 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.

  10. This study describes the functional effect and the molecular mechanism of the pathogenic ABCA4 variant c.5461-10T>C. The variant is functionally important as it leads to splicing defects and a reduced level of ABCA4 protein.

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

  1. 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.

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

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

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

  5. 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

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

  7. The physiological role of Abca4 may include the translocation of 11-cis (zeige CISH Proteine)-retinal complexes across the disk membrane

  8. Upregulation of Abca4 in the liver is a tissue-specific compensatory consequence of the 'knock-out' of Abcc6 (zeige ABCC6 Proteine) in mice.

  9. 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.

  10. 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

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

  1. ABCA4 can transport N-11-cis (zeige CISH Proteine)-retinylidene-phosphatidylethanolamine (PE), the Schiff-base conjugate of 11-cis (zeige CISH Proteine)-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 (zeige ABCB5 Proteine) 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

GENE ID SPEZIES
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
Ausgewählte Anbieter für ABCA4 Proteine (ABCA4)
Haben Sie etwas anderes gesucht?