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|Product Name||ETHE1, 13-254aa, Human|
|Amino Acid Sequence||MGSSHHHHHH SSGLVPRGSH MGSHMLSQRG GSGAPILLRQ MFEPVSCTFT YLLGDRESRE AVLIDPVLET APRDAQLIKE LGLRLLYAVN THCHADHITG SGLLRSLLPG CQSVISRLSG AQADLHIEDG DSIRFGRFAL ETRASPGHTP GCVTFVLNDH SMAFTGDALL IRGCGRTDFQ QGCAKTLYHS VHEKIFTLPG DCLIYPAHDY HGFTVSTVEE ERTLNPRLTL SCEEFVKIMG NLNLPKPQQI DFAVPANMRC GVQTPTA|
|Background||ETHE1 is a mitochondrial sulfur dioxygenase involved in catabolism of sulfide that accumulates to toxic levels in ethylmalonic encephalopathy. Mutations of ETHE1 were detected in all the typical ethylmalonic encephalopathy patients analysed, but no ETHE1 mutations were identified in patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria. Recombinant human ETHE1 protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography.|
|Concentration||0.5mg/ml (determined by Bradford assay)|
|Form||Liquid, in 20mM Tris-HCl buffer (pH 8.0) containing 2mM DTT, 10% glycerol, 200mM NaCl|
|Intended Use||For Research Use Only|
|Molecular Weight||20.7kDa (192aa), confirmed by MALDI-TOF|
|NCBI Accession #||NP_055112|
|Purity||> 90% by SDS-PAGE|
|References||Tiranti V. et al. (2009) Nat Med. 15:200-205.
Mineri R. et al. (2008) J Med Genet. 45:473-478
|Storage||Can be stored at +4C short term (1-2 weeks). For long term storage, aliquot and store at -20C or -70C. Avoid repeated freezing and thawing cycles.|
|Synonyms||Protein ETHE1, mitochondrial,|
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