Anti-CLN3抗体This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis （CLN） genes,

产品编号 yb-8016R
英文名称 Anti-CLN3抗体
中文名称 神经细胞蜡样质脂褐质沉积病蛋白CLN3抗体
别    名 Batten disease protein; Battenin; BTS; Ceroid lipofuscinosis neuronal 3; Ceroid lipofuscinosis neuronal 3 juvenile (Batten Spielmeyer Vogt disease); Ceroid lipofuscinosis neuronal 3 juvenile; CLN 3; MGC102840; Protein CLN3; CLN3_HUMAN.
Anti-CLN3抗体 
说 明 书 0.2ml  
研究领域 细胞生物  神经生物学  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Cow, Horse, Rabbit, Monkey, macaque
产品应用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=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.
分 子 量 48kDa
细胞定位 细胞浆 细胞膜 
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human CLN3
亚    型 IgG
纯化方法 affinity purified by Protein A
储 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

PubMed PubMed
产品介绍 background:
This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. 

Function:
Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes. 

Subunit:
Interacts with DCTN1 and KIF3A. Interacts with RAB7A and RILP.

Subcellular Location:
Lysosome membrane; Multi-pass membrane protein. Late endosome

Post-translational modifications:
Highly glycosylated. 
Farnesylation is important for trafficking to lysosomes. 

DISEASE:
Defects in CLN3 are the cause of neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]; also known as Batten disease. A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3. 

Similarity:
Belongs to the battenin family. 

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.