尼曼匹克C2前体蛋白抗体
规格：1mg/1ml
英文名： NPC2
别名： EDDM1; Niemann Pick C2; Epididymal protein 1; Epididymal secretory protein; Epididymal secretory protein E1; HE1; Human epididymis-specific protein 1; Niemann-Pick disease type C2; Niemann-Pick diseas
分子量： 15kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Niemann
交叉反应：Human, Mouse, Rat, Cow, Sheep,
细胞定位：细胞浆 分泌型蛋白
尼曼匹克C2前体蛋白抗体产品介绍：background: This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008] Function: May be involved in the regulation of the lipid composition of sperm membranes during the maturation in the epididymis. Subunit: Interacts with NUS1/NgBR, the interaction stabilizes NCP2 and regulates cholesterol trafficking. Interacts with DHDDS. Interacts with NPC1 (via the second lumenal domain) in a cholestrol-dependent manner (By similarity). Interacts with NEDD4L (via C2 domain) (By similarity). Interacts with NPC1L1. Subcellular Location: Secreted. Endoplasmic 尼曼匹克C2前体蛋白抗体reticulum. Lysosome. Tissue Specificity: Epididymis. DISEASE: Defects in NPC2 are the cause of Niemann-Pick disease type C2 (NPDC2) [MIM:607625]. A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C2 has a highly variable clinical phenotype. Clinical features include variable 尼曼匹克C2前体蛋白抗体hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late *****hood. Similarity: Belongs to the NPC2 family. Database links: Entrez Gene: 10577 Human Omim: 601015 Human SwissProt: P61916 Human SwissProt: P61918 Monkey Unigene: 433222 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
尼曼匹克C2前体蛋白抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：肿瘤 心血管 细胞生物 神经生物学 信号转导
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid