产品货号 : mlR13209
英文名称 : FOXRED1
中文名称 : 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.
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 : WB=1:500-2000 ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 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 : 54kDa
细胞定位 : 细胞膜
性 状 : Lyophilized or Liquid
浓 度 : 1mg/ml
免 疫 原 : KLH conjugated synthetic peptide derived from human FOXRED1:251-350/486
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 : 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.
SWISS:
Q96CU9
Gene ID:
55572
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.
产品图片
