ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 (ABCA4) ELISA试剂盒

The membrane-associated protein encoded by ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) transporters. 再加上,我们可以发ABCA4 抗体 (58)ABCA4 蛋白 (10)和数多这个蛋白质的别的产品。

list all ELISA KIts 基因 基因ID UniProt
ABCA4 24 P78363
ABCA4 11304 O35600
大鼠 ABCA4 ABCA4 310836  
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Human ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 (ABCA4) interaction partners

  1. 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.

  2. 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.

  3. study to determine the effect of 15 individual ABCA4 mutations on retinal disease severity; in the hemizygous state, 2/15 ABCA4 alleles retain preserved peripheral retinal function; 7/15 are associated with either preserved or only mildly abnormal retinal function, worse in older patients; 6/15 behave like null mutations

  4. The ABCA4 variant c.5461-10T-->C is located on a founder haplotype lacking other disease-causing rare sequence variants. In vitro studies revealed that it leads to mRNA exon skipping and ABCA4 protein truncation.

  5. Genetic risk score estimates suggest that defined common ABCA4 variants influence disease risk in carriers of a single pathogenic ABCA4 allele.

  6. A combination of p.[(L541P; A1038V)] and/or a truncating ABCA4 mutation always resulted in an early disease onset. Identification of ABCA4 retinopathies provides a specific molecular diagnosis and justifies a prompt introduction of simple precautions that may slow disease progression.

  7. Nullizygosity for ABCA4 is associated with early onset cone-rod dysfunction with rapid progression shown by enlargement of central atrophy on FAF, decline of ERG (显示 ERG ELISA试剂盒) amplitudes with age, and a high risk of reaching legal blindness by the fourth decade.

  8. Results identified nonsynonymous variants in MYH9 (显示 MYH9 ELISA试剂盒) and ABCA4 to be the most frequent risk loci in nonsyndromic orofacial clefts in the Taiwanese population.

  9. 1268A>G missense variant of the ABCA4 gene has often been reported as causative of disease, and in other cases protective of disease, in our family case, the variant appears to reduce or delay the risk of onset of Stargardt disease.

  10. Of the 225 genetic tests performed, 150 were for recessive IRD (显示 SCRIB ELISA试剂盒), and 75 were for dominant IRD (显示 SCRIB ELISA试剂盒). A positive molecular diagnosis was made in 70 (59%) of probands with recessive IRD (显示 SCRIB ELISA试剂盒) and 19 (26%) probands with dominant IRD (显示 SCRIB ELISA试剂盒). Thirty-two novel variants were identified; among these, 17 sequence changes in four genes were predicted to be possibly or probably damaging including: ABCA4 (14), BEST1 (显示 BEST1 ELISA试剂盒) (2), PRPH2 (显示 PRPH2 ELISA试剂盒) (1), and TIMP3 (显示 TIMP3 ELISA试剂盒)

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

  1. a comprehensive analysis using RNA-seq identified important roles of the acute stress response in the degenerating retina of Abca4-/-Rdh8 (显示 HSD17B6 ELISA试剂盒)-/- 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 (显示 ERG ELISA试剂盒) 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 (显示 CISH ELISA试剂盒)-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 (显示 ABCC6 ELISA试剂盒) 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

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

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

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

  1. ABCA4 can transport N-11-cis (显示 CISH ELISA试剂盒)-retinylidene-phosphatidylethanolamine (PE), the Schiff-base conjugate of 11-cis (显示 CISH ELISA试剂盒)-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 (显示 DNAH8 ELISA试剂盒) activity. Thus, we present the first evidence that phosphorylation of ABCA4 can regulate its function

  4. results indicate that ATP binding cassette protein (显示 ABCB5 ELISA试剂盒) ABCA4 preferentially binds N-retinylidene-phosphatidylethanolamine with high affinity

ABCA4 抗原简介

Antigen Summary

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.

Gene names and symbols associated with ABCA4

  • ATP binding cassette subfamily A member 4 (ABCA4) 抗体
  • ATP binding cassette subfamily A member 4 (abca4) 抗体
  • ATP-binding cassette, sub-family A (ABC1), member 4 (Abca4) 抗体
  • ATP binding cassette subfamily A member 4 L homeolog (abca4.L) 抗体
  • ATP binding cassette subfamily A member 4 (Abca4) 抗体
  • Abc10 抗体
  • Abcr 抗体
  • ARMD2 抗体
  • AW050280 抗体
  • CORD3 抗体
  • D430003I15Rik 抗体
  • FFM 抗体
  • RmP 抗体
  • RP19 抗体
  • STGD 抗体
  • STGD1 抗体

Protein level used designations for ABCA4

ATP-binding cassette sub-family A member 4 , retinal-specific ATP transporter ABCA4 , ATP-binding cassette, sub-family A member 4 , ATP-binding cassette, sub-family A (ABC1), member 4 , retinal-specific ATP-binding cassette transporter-like , ATP binding cassette transporter , 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, member 4 , retinal ABCA4 transporter

GENE ID SPECIES
424490 Gallus gallus
496442 Xenopus (Silurana) tropicalis
745972 Pan troglodytes
100393904 Callithrix jacchus
100440877 Pongo abelii
100479076 Ailuropoda melanoleuca
100605850 Nomascus leucogenys
24 Homo sapiens
444852 Canis lupus familiaris
11304 Mus musculus
497268 Xenopus laevis
281584 Bos taurus
310836 Rattus norvegicus
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