• 靶点：
• NPC2

• 简介：
• >>Lysosome;>>Cholesterol metabolism

• 基因名称：
• NPC2 HE1

• 蛋白名称：
• NPC2

• Human Gene Id：
• 10577

• Human Swiss Prot No：
• P61916

• Mouse Gene Id：
• 67963

• Mouse Swiss Prot No：
• Q9Z0J0

• 免疫原：
• Synthesized peptide derived from human NPC2 AA range: 9-59

• 特异性：
• This antibody detects endogenous levels of NPC2 at Human/Mouse

• 组成：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• 来源：
• Polyclonal, Rabbit,IgG

• 稀释：
• WB 1：500-2000

• 纯化工艺：
• The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

• 浓度：
• 1 mg/ml

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 分子量：
• 17kD

• 背景：
• 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],

• 功能：
• disease:Defects in NPC2 are the cause of Niemann-Pick disease type C2 (NPC2) [MIM:607625]. NPC2 is a fatal autosomal recessive hereditary disease characterized by the accumulation of low-density lipoprotein-derived cholesterol in lysosomes.,function:May be involved in the regulation of the lipid composition of sperm membranes during the maturation in the epididymis.,similarity:Belongs to the NPC2 family.,tissue specificity:Epididymis.,

• 细胞定位：
• Secreted . Endoplasmic reticulum . Lysosome . Interaction with cell-surface M6PR mediates endocytosis and targeting to lysosomes. .

• 组织表达：
• Detected in gallbladder bile (PubMed:21315718). Detected in fibroblasts, kidney, liver, spleen, small intestine, placenta and testis (at protein level) (PubMed:11125141). Epididymis.

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