APH1A Antibody

說明書

中文名稱：

APH1A兔多克隆抗體
貨號：

CSB-PA001902GA01HU
規格：

￥3,900
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

Q96BI3
基因名：

APH1A
別名：

APH1A; PSF; CGI-78; UNQ579/PRO1141; Gamma-secretase subunit APH-1A; APH-1a; Aph-1alpha; Presenilin-stabilization factor
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human APH1A
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity Purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Required for normal gamma-secretase assembly. The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels.
基因功能參考文獻：
1. Using purified PSEN1/Aph1A gamma-secretase and the APPC99-3XFLAG substrate, authors show that substrate shortening progressively destabilizes the consecutive enzyme-substrate complexes that characterize the sequential gamma-secretase processing of APP; present a unifying model for how PSEN or APP mutations enhance amyloidogenic Abeta production, suggests that environmental factors may increase Alzheimer's Disease risk. PMID: 28753424
2. Data show that presenilin 1 (PS1)/anterior-pharynx-defective protein 1 (Aph1b), presenilin 2 (PS2)/Aph1aL, PS2/Aph1aS and PS2/anterior pharynx defective 1 homolog B (Aph1b) gamma-secretase produced amyloid beta peptide (Abeta) with a higher Abeta42+Abeta43-to-Abeta40 (Abeta42(43)/Abeta40) ratio than the other gamma-secretases. PMID: 27608597
3. Data show that presenilin 1 (PS1)-containing gamma-secretase complexes were targeted to the plasma membrane, whereas presenilin 2 (PS2)-containing ones were addressed to the trans-Golgi network, to recycling endosomes. PMID: 27059953
4. No statistically significant difference was detected either in APOE or APH-1a polymorphisms, not suggesting a strong susceptibility to the development of Alzheimer disease. PMID: 26738354
5. A loss of PS/gamma-secretase function to cleave Abeta42(43) may initiate Alzheimer's disease. PMID: 23291095
6. We demonstrate that extending the transmembrane domain of the amyloid precursor protein-derived C99 substrate in proximity to the cytosolic face strongly influences gamma-secretase cleavage specificity. PMID: 23253155
7. The -980C/G polymorphism in APH-1A promoter confers risk of Alzheimer's disease PMID: 21443683
8. Coexpression of wild-type or S-palmitoylation-deficient APH1aL and nicastrin leads to marked stabilization of transgenic presenilin 1 in the brains of double-transgenic mice. PMID: 21123562
9. Endogenous Aph-1a and its proteolytic fragment have unique properties for cleavage control that may have implications for gamma-secretase regulation and intracellular distribution. PMID: 20674680
10. Co-overexpression of presenilin-1 or APH-1 abrogated gamma-secretase inhibition probably through prevention of the incorporation of CRB2 into the gamma-secretase complex PMID: 20299451
11. Aph-1 associates directly with full-length and C-terminal fragments of gamma-secretase substrates PMID: 20145246
12. APH-1 binds to presenilins and nicastrin and may play a role in maturation of presenilin-nicastrin complexes PMID: 12471034
13. Expression of APH-1A increases amyloid beta peptide levels and gamma-secretase activity. PMID: 12763021
14. APH-1 and the gamma-secretase complex bind to the transmembrane domain region of nicastrin PMID: 12917438
15. Six different polymorphisms have been determined but the polymorphisms in APH-1a/b coding regions are not linked to higher risk for Alzheimer disease in an Italian population. PMID: 12972157
16. APH-1 can be processed by several endoproteolytic events and generates a stable C-terminal fragment that associates with nicastrin PMID: 14593096
17. conserved transmembrane Gly122, Gly126, and Gly130 in the fourth transmembrane region of APH-1a are part of the membrane helix-helix interaction GXXXG motif and are essential for the stable association of APH-1aL with presenilin, nicastrin, and PEN-2 PMID: 14627705
18. Only the combined overexpression of presenilin 1 and nicastrin together with APH-1a G122D facilitated the formation of a fully active gamma-secretase complex PMID: 15210705
19. both APH-1a splice forms and APH-1b are expressed in peripheral and neuronal cells. APH-1aS, APH-1aL, and APH-1b form separate, proteolytically active gamma-secretase complexes containing either one of the two presenilins. PMID: 15286082
20. knock down of APH-1a, but not APH-1b, resulted in impaired maturation of nicastrin and reduced expression of presenilin 1, presenilin 2, and PEN-2 proteins PMID: 15629423
21. These results collectively indicate that the three forms of APH-1 can replace each other in presenilin (PS) complexes and that the transmembrane GxxxG region is essential for the stability of the APH-1 protein as well as the assembly of PS complexes. PMID: 16757808
22. Over-expression of APH-1 and inhibition of proteasomal APH-1 degradation facilitated gamma-secretase cleavage of APP to generate Abeta. Thus,degradation of APH-1 protein is mediated by the ubiquitin-proteasome pathway. PMID: 17059559
23. analysis of model of the gamma-secretase complex subunit architecture and demonstration of the close proximity of the C-terminal fragment of presenilin with APH-1 PMID: 18801744
24. that there is an association between the -980C/G polymorphism in the APH-1a promoter region and the development of sporadic Alzheimer's disease PMID: 19368855
25. the conserved transmembrane histidine residues contribute to APH1 function and can affect presenilin catalytic activity PMID: 19369254
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亞細胞定位：

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus, Golgi stack membrane; Multi-pass membrane protein.
蛋白家族：

APH-1 family
組織特異性：

Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain. Isoform 1 and isoform 2 are nearly expressed at the same level.
數據庫鏈接：

HGNC: 29509

OMIM: 607629

KEGG: hsa:51107

STRING: 9606.ENSP00000358105

UniGene: Hs.108408

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