单跨膜蛋白贵翱齿搁贰顿1抗体
规格：1尘驳/1尘濒
英文名： FOXRED1
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_HU
分子量： 54kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human FOXRED1
交叉反应：Human, Mouse, Rat, Dog, Pig, Horse, Rabbit,
细胞定位：细胞膜
单跨膜蛋白贵翱齿搁贰顿1抗体产物介绍：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 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: 单跨膜蛋白贵翱齿搁贰顿1抗体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 -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. Gene ID: 55572 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:单跨膜蛋白贵翱齿搁贰顿1抗体 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.
单跨膜蛋白贵翱齿搁贰顿1抗体产物应用：WB=1:100-500 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.
研究领域：肿瘤 细胞生物 神经生物学 信号转导 新陈代谢
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid