尼曼匹克颁2前体蛋白抗体
规格：1尘驳/1尘濒
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：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
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
尼曼匹克颁2前体蛋白抗体产物介绍：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 尼曼匹克颁2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 尼曼匹克颁2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.
尼曼匹克颁2前体蛋白抗体产物应用：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