老年性痴呆蛋白APH2抗体
[别名:Anterior pharynx defective 2; APH 2; APH2; NCSTN; NCT; NICA_HUMAN; Nicastrin.
产品介绍:老年性痴呆蛋白APH2抗体The Presenilin 1 (PS1) and Presenilin 2 (PS2) transmembrane proteins are components of high molecular weight complexes. These complexes mediate proteolytic cleavage within the transmembrane domain of several proteins, including the ∫-Amyloid precursor protein (∫APP) and Notch. Missense mutations in the genes encoding the Presenilin proteins increase the proteolysis of ∫APP and results in the overproduction of the neurotoxic ∫-Amyloid peptide, which results in a condition associated with Familial Alzheimer’s disease (FAD). A novel component of the presenilin complex, nicastrin, is a type I transmembrane glycoprotein that is involved in mediating Notch/GLP-1 signaling. In addition, nicastrin contributes to the processing of ∫APP, which makes nicastrin an attractive potential target for modulating the production of ∫-Amyloid in patients with Alzheimer’s disease. Originally purified from immunoprecipitated PS1 complexes from HEK293 cells, nicastrin contains hydrophilic amino and carboxy-terminal domains, a short, hydrophobic transmembrane domain and potential N-myristoylation and phosphorylation sites.
Function : Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). It probably represents a stabilizing cofactor required for the assembly of the gamma-secretase complex.
Subunit : Belongs to the nicastrin family.
Subcellular Location : Membrane. Melanosome. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
Tissue Specificity : Widely expressed.
DISEASE : Defects in NCSTN are the cause of familial acne inversa type 1 (ACNINV1) [MIM:142690:. A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty.
Similarity : Belongs to the nicastrin family.
规格:多种抗体规格提供
贮存: 贮存于-20℃
纯化方法:亲和纯化的蛋白
研究领域:细胞生物 免疫学 锌指蛋白
产品应用比例:WB=1:100-500 Elisa=1:500-1000 IP=1:20-100 IHC-P=1:100-500 IHC-F=1:100-500 Flow-Cyt=1/20-1/100
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