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Product Name FOXRED1 Chinese Name 单Transmembrane proteinFOXRED1抗体 Alias 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. Research Area Tumour Cell biology Neurobiology Signal transduction The new supersedes the old Immunogen Species Rabbit Clonality Polyclonal React Species Mouse, (predicted: Human, Rat, Dog, Pig, Horse, Rabbit, ) Applications WB=1:500-2000 ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 54kDa Cellular localization The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human FOXRED1: 251-350/486 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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
Database links:Entrez Gene: 55572 Human
Entrez Gene: 235169 Mouse
GenBank: NP_060017.1 Human
Omim: 613622 Human
SwissProt: Q4R510 Cynomolgus Monkey
SwissProt: Q96CU9 Human
SwissProt: Q3TQB2 Mouse
Unigene: 317190 Human
Unigene: 138512 Mouse
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Diabetes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.Product Picture Sample: Lung (Mouse) Lysate at 40 ug
Primary: Anti-FOXRED1 (SL13209R) at 1/300 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 54 kD
Observed band size: 50 kD
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