Recombinant Human ATP-binding cassette sub-family A member 7(ABCA7) ,partial

Code CSB-YP812913HU
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Source Yeast
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Code CSB-EP812913HU
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Source E.coli
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Code CSB-EP812913HU-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP812913HU
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Source Baculovirus
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Code CSB-MP812913HU
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Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names ABCA7
Uniprot No. Q8IZY2
Alternative Names ABC transporter ABCA7; ABC transporter member 7; ABCA SSN; ABCA-SSN; ABCA7; ABCA7_HUMAN; ABCX; ATP binding cassette sub family A (ABC1) member 7; ATP binding cassette sub family A member 7; ATP binding Cassette Transporter A7; ATP-binding cassette sub-family A member 7; autoantigen SS N; Autoantigen SS-N; FLJ40025; Macrophage ABC transporter
Species Homo sapiens (Human)
Protein Length Partial
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form Lyophilized powder
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet Please contact us to get it.

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Target Data

Function Plays a role in phagocytosis by macrophages of apoptotic cells. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocytes differentiation.
Gene References into Functions
  1. this meta-analysis suggested that ABCA7 rs3764650 polymorphism is significantly associated with Alzheimer's disease risk PMID: 29441941
  2. Study investigated the association between ABCA7 rs3764650 SNP and blood lipid levels in Southern Chinese Han sporadic Alzheimer's disease population, and found GG genotype was a risk factor of sporadic Alzheimer's disease as well as lipid homeostasis. PMID: 29111006
  3. The primary findings of this report are that abnormal ABCA7 exon 41 splicing is found in the brain of an individual carrying the minor C allele of rs200538373 and that rs200538373 is a functional SNP PMID: 28655137
  4. rs3764650 ABCA7 is not associated with late-onset Alzheimer's disease. PMID: 28477215
  5. Study uses targeted sequencing of ABCA7 to identify splicing, stop-gain and intronic risk variants for Alzheimer disease. Study shows that multiple variants in ABCA7 contribute to late-onset Alzheimer's disease risk. PMID: 28400126
  6. ABCA7 PTC mutations play a substantial role in early-onset Alzheimer disease, warranting genetic screening of ABCA7 in genetically unexplained patients. PMID: 28447221
  7. This study demonstrated that Genetic Variations in ABCA7 Can Increase Secreted Levels of Amyloid-beta40 and Amyloid-beta42 Peptides and ABCA7 Transcription in Cell Culture Models. PMID: 27314524
  8. Its genetic variation contributes to pathogenesis of Alzheimer disease. PMID: 28789839
  9. The major difference in the pattern of lipid peaks between ABCA7 and ABCA1 was the high lysoPC/PC ratio of ABCA7. PMID: 28373057
  10. It is a potential protective factor for Alzheimer's disease.( PMID: 27289440
  11. Results confirm that ABCA7 loss of function variants are enriched in patients with Alzheimer disease and extend this finding to predicted damaging missense variants PMID: 27037229
  12. A detailed clinicopathologic description of patients carrying an ABCA7 loss of function mutation: a classical Alzheimer disease phenotype, though with a striking wide onset age range, suggesting the influence of unknown modifying factors PMID: 27037232
  13. Results suggested that ABCA7 genotypes contribute to the AD risk through involvement in amyloid-beta deposition on in vivo imaging, but not in tau pathology, brain atrophy, or decreased glucose metabolism PMID: 27003212
  14. Common variants in ABCA7 and MS4A6A are associated with cortical and hippocampal atrophy. PMID: 26923404
  15. Studies indicate that ATP-binding cassette transporter A7 (ABCA7) single nucleotide polymorphisms (SNPs) that increase Alzheimer's disease (AD) risk. PMID: 26517904
  16. Study replicates the association of ABCA7 loss-of-function variants with Alzheimer's disease risk, and highlights the necessity of performing gene-based, rather than single-variant analyses to replicate the association in this type of studies PMID: 26654793
  17. ABCA7 has a role in Alzheimer amyloid processing PMID: 26260791
  18. The results are consistent with the view that assembly of HDL particles with extracellular apoA-I is primarily with the cellular phospholipid molecules being regulated in part by their physicochemical nature. PMID: 25665932
  19. Loss-of-function of ABCA7 could be a potential mechanism of Alzheimer's disease as shown in a Belgian cohort. PMID: 26141617
  20. Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease in Icelanders. [meta-analysis] PMID: 25807283
  21. Collectively, our analysis further supports previous findings that the ABCA7 rs3764650 polymorphism is associated with Alzheimer disease susceptibility. PMID: 24643655
  22. Brain DNA methylation in ABCA7 was associated with pathological Alzheimer disease. PMID: 25365775
  23. It is a susceptibility gene of Alzheimer's disease in the Han-Chinese in Taiwan. PMID: 24908168
  24. ABCA7 (rs3,764,650) was associated with sporadic Alzheimer disease in the Chinese population, with both ApoEepsilon4-carrier and aging being factors enhancing its risk. PMID: 24113560
  25. Of those 394 variants, 34 showed strong evidence of regulatory function (RegulomeDB score <3), and only 3 of them were genome-wide significant SNPs (ZCWPW1/rs1476679, CLU/rs1532278 and ABCA7/rs3764650). PMID: 24743338
  26. In Alzheimer's disease patients with cognitive impairments, an association was linked to SNPs of ABCA7. PMID: 24530172
  27. The minor G allele frequency of the rs1788799 polymorphisms in NPC1 might be a protective factor while the rs3764650 polymorphisms of ABCA7 might not be related to sporadic Alzheimer's disease in the Han Chinese population. PMID: 24064683
  28. Interactions between two cholesterol metabolizing genes, ABCA7 and APOE epsilon4, are associated with memory and Alzheimer's disease. PMID: 23669301
  29. These studies provide the first direct evidence for ABCA1 and ABCA7 functioning as phospholipid transporters and suggest that this activity is an essential step in the loading of apoA-1 with phospholipids for HDL formation. PMID: 24097981
  30. the rs3764650T allele that decreases AD risk is associated with increased ABCA7 expression PMID: 24141082
  31. The ABCA7 gene is regulated by sterol in a direction opposite to that of ABCA1. PMID: 23324282
  32. [REVIEW]ABCA7 seems to be one of the key molecules linking sterol homeostasis and the host defense system PMID: 21173549
  33. ABCA7 and the MS4A6A/MS4A4E gene cluster are new Alzheimer's disease susceptibility loci. PMID: 21460840
  34. ABCA7 has the ability to bind apolipoproteins and promote efflux of cellular phospholipids without cholesterol, and has a possible role of ABCA7 in cellular phospholipid metabolism in peripheral tissues PMID: 12917409
  35. Overexpression of ABCA7 in HeLa cells resulted in increased expression of intracellular and cell surface ceramide and elevated intracellular phosphatidylserine levels. PMID: 12925201
  36. ABCA7 compensates the function of ABCA1 for release of cell cholesterol in a certain condition(s). PMID: 14570867
  37. Alternative splicing could be involved in the post-transcriptional regulation of the expression and function of human ABCA7 PMID: 14592415
  38. the ABCA7-mediated reaction generated mostly small cholesterol-poor particles; ABCA7 produces this HDL subfraction only as a very minor component. PMID: 15930518
  39. These studies reveal a major role of ABCA7 and not -A1 in the clearance of apoptotic cells and therefore suggest that ABCA7 is an authentic orthologue of CED-7. PMID: 16908670

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Involvement in disease Alzheimer disease 9 (AD9)
Subcellular Location Cell membrane, Multi-pass membrane protein, Golgi apparatus membrane, Multi-pass membrane protein, Early endosome membrane, Multi-pass membrane protein
Protein Families ABC transporter superfamily, ABCA family
Tissue Specificity Expressed in leukocytes (at protein level). Widely expressed. Highly expressed in myelo-lymphatic tissues including peripheral leukocytes, thymus, spleen and bone marrow. Isoform 2 is more abundant in lymph node, spleen, thymus and trachea than isoform 1
Database Links

HGNC: 37

OMIM: 605414

KEGG: hsa:10347

STRING: 9606.ENSP00000263094

UniGene: Hs.134514

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