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

中文名稱：

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

CSB-YP812913HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Yeast
其他：

中文名稱：

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

CSB-EP812913HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
其他：

中文名稱：

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

CSB-EP812913HU-B
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
共軛：

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.
其他：

中文名稱：

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

CSB-BP812913HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

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

CSB-MP812913HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評價
靶點詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

ABCA7
Uniprot No.：

Q8IZY2
別名：

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
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

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.
產(chǎn)品提供形式：

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復溶：

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.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)期：

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.
貨期：

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.
注意事項：

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.

產(chǎn)品評價

靶點詳情

功能：

Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP. Transports preferentially phosphatidylserine over phosphatidylcholine. Plays a role in lipid homeostasis and macrophage-mediated phagocytosis. Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells. May also mediate cholesterol efflux. May regulate cellular ceramide homeostasis during keratinocyte differentiation. Involved in lipid raft organization and CD1D localization on thymocytes and antigen-presenting cells, which plays an important role in natural killer T-cell development and activation. Plays a role in phagocytosis of apoptotic cells by macrophages. Macrophage phagocytosis is stimulated by APOA1 or APOA2, probably by stabilization of ABCA7. Also involved in phagocytic clearance of amyloid-beta by microglia cells and macrophages. Further limits amyloid-beta production by playing a role in the regulation of amyloid-beta A4 precursor protein (APP) endocytosis and/or processing. Amyloid-beta is the main component of amyloid plaques found in the brains of Alzheimer patients.
基因功能參考文獻：
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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相關(guān)疾病：

Alzheimer disease 9 (AD9)
亞細胞定位：

Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Early endosome membrane; Multi-pass membrane protein. Cytoplasm. Cell projection, ruffle membrane. Cell projection, phagocytic cup.; [Isoform 2]: Cytoplasm. Endoplasmic reticulum.
蛋白家族：

ABC transporter superfamily, ABCA family
組織特異性：

Expressed in leukocytes (at protein level). Widely expressed. Highly expressed in myelo-lymphatic tissues including peripheral leukocytes, thymus, spleen and bone marrow. Expressed in the hippocampus and the cerebellum. Isoform 2: Abundant in lymph node,
數(shù)據(jù)庫鏈接：

HGNC: 37

OMIM: 605414

KEGG: hsa:10347

STRING: 9606.ENSP00000263094

UniGene: Hs.134514