Description
| Product Name: | Human ETHE1 Recombinant Protein |
| Product Code: | RPPB3471 |
| Size: | 20µg |
| Species: | Human |
| Target: | ETHE1 |
| Synonyms: | Ethylmalonic encephalopathy protein 1, HSCO, Hepatoma subtracted clone one protein, YF13H12, protein ETHE1 mitochondrial, D83198, EC 3.1.2.6. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The ETHE1 solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 100mM NaCl and 10% glycerol. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 90% as determined by SDS-PAGE. |
| 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 |
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.
ETHE1 Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 267 amino acids (13-254) and having a molecular mass of 29.1kDa.ETHE1 is fused to a 25 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | ETHE1: 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. 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. Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family. |
| UniProt Protein Details: | Protein type:Mitochondrial; Hydrolase; EC 1.13.11.18 Chromosomal Location of Human Ortholog: 19q13.31 Cellular Component: cytoplasm; mitochondrial matrix; mitochondrion; nucleoplasm Molecular Function:iron ion binding; sulfur dioxygenase activity Biological Process: glutathione metabolic process Disease: Encephalopathy, Ethylmalonic |
| NCBI Summary: | This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016] |
| UniProt Code: | O95571 |
| NCBI GenInfo Identifier: | 73919341 |
| NCBI Gene ID: | 23474 |
| NCBI Accession: | O95571.2 |
| UniProt Secondary Accession: | O95571,Q96HR0, Q9H001, |
| UniProt Related Accession: | O95571 |
| Molecular Weight: | 27,873 Da |
| NCBI Full Name: | Persulfide dioxygenase ETHE1, mitochondrial |
| NCBI Synonym Full Names: | ETHE1, persulfide dioxygenase |
| NCBI Official Symbol: | ETHE1�� |
| NCBI Official Synonym Symbols: | HSCO; YF13H12�� |
| NCBI Protein Information: | persulfide dioxygenase ETHE1, mitochondrial |
| UniProt Protein Name: | Persulfide dioxygenase ETHE1, mitochondrial |
| UniProt Synonym Protein Names: | Ethylmalonic encephalopathy protein 1; Hepatoma subtracted clone one protein; Sulfur dioxygenase ETHE1 |
| Protein Family: | Persulfide dioxygenase |
| UniProt Gene Name: | ETHE1�� |
| UniProt Entry Name: | ETHE1_HUMAN |
