Anti-CTNS抗体Cystinosis is an autosomal recessive disorder resulting from defective lysosomal transport of cystine and present at birth as a failure to thrive,

产品编号 yb-12932R
英文名称Anti-CTNS抗体
中文名称 *抗体
别    名 CTNS LSB; Cystinosin; cystinosis, nephropathic; PQLC4; CTNS_HUMAN.
Anti-CTNS抗体   
说 明 书 0.1ml  0.2ml  
研究领域 肿瘤  细胞生物  信号转导  细胞类型标志物  新陈代谢  跨膜蛋白  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Rabbit, 
产品应用 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.
分 子 量 42kDa
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 CTNS/Cystinosin
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:
Cystinosis is an autosomal recessive disorder resulting from defective lysosomal transport of cystine and present at birth as a failure to thrive, rickets and proximal renal tubular acidosis. The human CTNS gene on chromosome 17p13 encodes the protein Cystinosin, and mutations in CTNS are responsible for nephropathic cystinosis. The CTNS promoter contains an Sp1 binding element. Cystinosin is an integral membrane protein containing 7 transmembrane domains that functions as a H+-driven transporter responsible for cystine export from lysosomes. In humans, Cystinosin is expressed abundantly in pancreas, kidney (mature and fetal), and skeletal muscle. The mouse homolog to CTNS encodes a protein which is expressed in all tissues except skeletal muscle. In the cell, Cystinosin co-localizes with LAMP-2 to lysosomes. A C-terminal GYDQL sorting motif within Cystinosin is critical for lysosomal localization.

Function:
CTNS (Cystinosin) is thought to transport cystine out of lysosomes. Mutations in the CTNS gene are the cause of cystinosis.

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

Tissue Specificity:
Strongly expressed in pancreas, kidney (adult and fetal) and in skeletal muscle. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal).