Source: | Rabbit | Gene Id: | 23474 |
Isotype: | IgG | Swiss Prot: | |
purity: | Purified by Protein A. |
Background: |
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. |
Reactivity | Human, Mouse |
Tested applications | WB IHC IF |
Clonality | Polyclonal Antibody |
Calculated MW | / |
Recommended Dilutions |
WB 1:100-1:1000
IHC 1:100-1:500
IF 1:50-1:200
|
Immunogen | KLH conjugated synthetic peptide derived from human E1 |
Storage | Aqueous buffered solution containing 100ug/ml BSA, 50% glycerol and 0.09% sodium azide. Store at -20℃ for 12 months |
Synonym | 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. |
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