Recombinant Human Ethylmalonic Encephalopathy 1, His-tagged

• Cat.No.: ETHE1-1382H
• Product Overview: Recombinant human ETHE1protein, fused to His-tag at N-terminus, wasexpressed in E.coli and purified by conventional chromatography.

Specification

• Cat. No.: ETHE1-1382H
• Description: ETHE1 is amitochondrial sulfur dioxygenase involved in catabolism of sulfide thataccumulates to toxic levels in ethylmalonic encephalopathy. Mutations ofETHE1 were detected in all the typical ethylmalonic encephalopathy patientsanalysed, but no ETHE1 mutations were identified in patients presenting withearly onset progressive encephalopathy with ethylmalonic aciduria.Recombinant human ETHE1 protein, fused to His-tag at N-terminus, wasexpressed in E.coli and purified by using conventional chromatography.
• Form: Liquid. 20mMTris-HCl buffer (pH8.0) containing 10% glycerol 0.1M NaCl.
• Molecular Weight: 29.1 kDa (267aa)
• Purity: > 90% by SDS–PAGE
• Concentration: 1.0 mg/ml(determined by Bradford assay)
• Sequences of aminoacids: MGSSHHHHHH SSGLVPRGSHMGSHMLSQRGGSGAPILLRQ MFEPVSCTFT YLLGDRESRE AVLIDPVLET APRDAQLIKE LGLRLLYAVN THCHADHITGSGLLRSLLPG CQSVISRLSG AQADLHIEDG DSIRFGRFAL ETRASPGHTP GCVTFVLNDH SMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPG DCLIYPAHDY HGFTVSTVEE ERTLNPRLTL SCEEFVKIMG NLNLPKPQQI DFAVPANMRCGVQTPTA
• Storage: Can bestored at +4°C short term (1-2 weeks). For long term storage, aliquot andstore at -20°C or -70°C. Avoid repeated freezing and thawing cycles.

Gene Information

• Gene Name: ETHE1 ethylmalonicencephalopathy 1 [ Homo sapiens ]
• Official Symbol: ETHE1
• Synonyms: ETHE1;ethylmalonic encephalopathy 1; HSCO; YF13H12; protein ETHE1, mitochondrial;ethylmalonic encephalopathy protein 1; hepatoma subtracted clone one protein
• Gene ID: 23474
• mRNA Refseq: NM_014297
• Protein Refseq: NP_055112
• MIM: 608451
• UniProt ID: O95571
• Chromosome Location: 19q13.32
• Function: hydrolase activity;metal ion binding