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Product Name ETHE1 Chinese Name 乙基丙二酸脑病蛋白抗体 Alias mitochondrial; Ethe1; ETHE1 protein, mitochondrial precursor; ETHE1_HUMAN; ethylmalonic encephalopathy 1; Ethylmalonic encephalopathy protein 1; hepatoma subtracted clone one; Hepatoma subtracted clone one protein; HSCO; Protein ETHE1; YF13H12. Research Area Cell biology Signal transduction Apoptosis Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Dog, Pig, Cow, Rabbit, Sheep, ) Applications ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 26kDa Cellular localization The nucleus cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human ETHE1: 191-254/254 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 Probably plays an important role in metabolic homeostasis in mitochondria. May function as a nuclear-cytoplasmic shuttling protein that binds transcription factor RELA/NFKB3 in the nucleus and exports it to the cytoplasm. Suppresses p53-induced apoptosis by preventing nuclear localization of RELA.
Involvement in disease:Defects in ETHE1 are a cause of ethylmalonic encephalopathy (EE) . EE is an autosomal recessive disorder characterized by neurodevelopmental delay and regression, recurrent petechiae, acrocyanosis, diarrhea, leading to death in the first decade of life. It is also associated with persistent lactic acidemia and ethylmalonic and methylsuccinic aciduria.
Function:
Probably plays an important role in metabolic homeostasis in mitochondria. May function as a nuclear-cytoplasmic shuttling protein that binds transcription factor RELA/NFKB3 in the nucleus and exports it to the cytoplasm. Suppresses p53-induced apoptosis by preventing nuclear localization of RELA.
Subunit:
Interacts with RELA.
Subcellular Location:
Cytoplasm. Nucleus. Mitochondrion matrix. Note=According to PubMed:12398897, it is cytoplasmic and nuclear. According to PubMed:14732903, it is found in the mitochondrial matrix.
Tissue Specificity:
Ubiquitously expressed.
DISEASE:
Defects in ETHE1 are a cause of ethylmalonic encephalopathy (EE) [MIM:602473]. EE is an autosomal recessive disorder characterized by neurodevelopmental delay and regression, recurrent petechiae, acrocyanosis, diarrhea, leading to death in the first decade of life. It is also associated with persistent lactic acidemia and ethylmalonic and methylsuccinic aciduria.
Similarity:
Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
SWISS:
O95571
Gene ID:
23474
Database links:Entrez Gene: 23474 Human
Entrez Gene: 66071 Mouse
Omim: 608451 Human
SwissProt: O95571 Human
SwissProt: Q9DCM0 Mouse
Unigene: 7486 Human
Unigene: 29553 Mouse
Unigene: 14691 Rat
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