ETHE1

Alternative Names: Ethylmalonic encephalopathy protein 1, protein ETHE1 mitochondrial, Hepatoma subtracted clone one protein, EC 3.1.2.6, HSCO, YF13H12, D83198.

ETHE1 is a mitochondrial sulfur dioxygenase responsible for breaking down toxic levels of sulfide in ethylmalonic encephalopathy. Mutations of ETHE1 were found in all typical patients with this condition, but not in patients with early onset progressive encephalopathy and ethylmalonic aciduria.

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  • Sku: PSB-pro-1027-5µg
  • Vendor: ProSpec-Tany
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Title

Product Details

Product Description

Recombinant Human Ethylmalonic Encephalopathy 1 is a rare genetic disorder that affects the metabolism of ethylmalonic acid. It belongs to the family of organic acidemias, which are characterized by the accumulation of organic acids in the body. With a weight of approximately 42 kDa, Recombinant Human Ethylmalonic Encephalopathy 1 plays a significant role in the breakdown of ethylmalonic acid, and its dysfunction leads to the accumulation of this acid, resulting in severe neurological symptoms. Understanding the molecular mechanisms underlying this disorder is crucial for developing potential therapeutic interventions.

Current Lead Time

7-14 Days

Product Specifications

Species
Human
Expression System E. coli
Purity 90% by SDS-PAGE
Activity
Not Available
Activity Assay
Animal Component Free (ACF) Yes
Molecular Weight
29.1 kDa
Structure Homodimer
Endotoxin Concentration
Not Available
Purification Method Not Available
Form
Frozen
Formulation The ETHE1 solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 100mM NaCl and 10% glycerol.

*For Research Use Only

Product Guarantee

If your product is within its expiration period, and has not performed according to expectations, fill out the sample return form. Return the unused sample frozen, with the auto generated packing slip to the address on the instructions. You will receive a full refund along with a replacement of the unused portion (inclusive of the failed test). Damages do not cover any additional costs incurred for failed experimentation. 

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

Storage Instruction

Reconstituted store at -20°C or -80°C.We recommend that single use aliquots are prepared to avoid freeze-thaw cycles.

Sample Prep Instruction

1. Thaw the vial on ice, spin briefly
2. Prepare single-use or stock aliquots. This stage will depend on your final application so please adapt as appropriate. All our proteins are supplied carrier protein-free. If compatible with your work and you are storing at lower concentrations (<50 ug/ml) adding carrier protein is highly advised (usually 1% w/v high purity BSA or equivalent – ensure all buffers are sterile-filtered).
3. Prepare single-use aliquots whenever possible to avoid freeze-thaw cycles which can damage the proteins and reduce bioactivity. Store aliquots at -70 °C (or -20 °C)
4. We recommend sterile filtering after dilution in media or the final working solution

References

Not Available

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ETHE1

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