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货号： bs-13209R-PE-Cy7 基本售价： 2980.0 元 规格： 100ul
产品信息
- 产品编号
- bs-13209R-PE-Cy7
- 英文名称
- Anti-FOXRED1/PE-Cy7
- 中文名称
- PE-Cy7标记的单跨膜蛋白FOXRED1抗体
- 别 名
- FAD dependent oxidoreductase domain containing 1; FAD dependent oxidoreductase domain containing protein 1; FAD-dependent oxidoreductase domain-containing protein 1; FOXRED 1; FOXRED1; FP634; FXRD1_HUMAN; H17.
- 规格价格
- 100ul/2980元购买 大包装/询价
- 说 明 书
- 100ul
- 研究领域
- 肿瘤 细胞生物 神经生物学 信号转导 新陈代谢
- 抗体来源
- Rabbit
- 克隆类型
- Polyclonal
- 交叉反应
- Human, Mouse, Rat, Dog, Pig, Horse, Rabbit,
- 产品应用
- ICC=1:50-200 IF=1:50-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
- 分 子 量
- 54kDa
- 性 状
- Lyophilized or Liquid
- 浓 度
- 1mg/ml
- 免 疫 原
- KLH conjugated synthetic peptide derived from human FOXRED1
- 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.
- 产品介绍
- background:
FOXRED1 is a 486 amino acid single-pass membrane protein. Utilizing FAD as a cofactor, FOXRED1 may act as a chaperone protein essential for the function of mitochondrial complex I. Mutations to FOXRED1 may result in mitochondrial complex I deficiency (MT-C1D), which results in a wide range of clinical maladies from lethal neonatal disease to adult onset neurodegenerative disorders. Common phenotypes of MT-C1D include cardiomyopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. FOXRED1 exists as three alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 11q24.2. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome.
Subcellular Location:
Membrane; Single-pass membrane protein (Potential).
DISEASE:
Defects in FOXRED1 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
Database links:Entrez Gene: 55572 Human
Entrez Gene: 235169 Mouse
GenBank: NP_060017.1 Human
Omim: 613622 Human
SwissProt: Q5EA45 Cow
SwissProt: Q4R510 Cynomolgus Monkey
SwissProt: Q96CU9 Human
SwissProt: Q3TQB2 Mouse
Unigene: 317190 Human
Unigene: 138512 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Leigh综合征的发生率占新生儿的1/40,000.具有不同的基因类型,但临床具有共性特点,一般发病在1岁或以后,表现为肌张力减退,发作性呕吐,共济失调,舞蹈徐动症和过度通气,脑病表现为丧失语言发育能力,运动异常表现为痉挛性运动和异常呼吸节律,出现脑干或基底节损害体征和听力丧失,小脑损害导致共济失调,眼震和张力失常.眼科症状表现为视力丧失和眼肌麻痹.出现亚临床的周围神经病,出现神经传导速度减慢45%.临床体征可以在感染或糖尿病后出现.病程进展出现运动或智能减退.常在发病后2年内死亡.