CTNS,胱氨酸抗体

产品编号HZ-12932R
英文名称CTNS
中文名称胱氨酸抗体
别 名CTNS LSB; Cystinosin; cystinosis, nephropathic; PQLC4; CTNS_HUMAN.
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,
CTNS,胱氨酸抗体产品应用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.
CTNS,胱氨酸抗体PubMedPubMed
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).

CTNS,胱氨酸抗体DISEASE:
Defects in CTNS are the cause of cystinosis nephropathic type (CTNS) [MIM:219800]. It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications.
Defects in CTNS are the cause of cystinosis adult non-nephropathic type (CTNSANN) [MIM:219750]. It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benigne course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals.
Defects in CTNS are the cause of cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]. It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis manifests itself first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features.

Similarity:
Belongs to the cystinosin family.
Contains 2 PQ-loop domains.

Database links:
UniProtKB/Swiss-Prot: O60931.2

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