Recombinant human ETHE1 protein

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.

Product Specifications

Product Name Alternative

Protein ETHE1 mitochondrial, Protein ETHE1, mitochondrial

Expression System

E.coli

Antigen Species

Human

Tag

His-Tag

Applications

SDS-PAGE

Concentration

1 mg/mL (determined by Bradford assay)

Purity

> 90% by SDS-PAGE

Molecular Weight

29.1 kDa (267aa) confirmed by MALDI-TOF

Additionnal Information

ETHE1, Protein ETHE1 mitochondrial, Protein ETHE1, mitochondrial, ATGP1382-10 µg, ATGP1382-20 µg, ATGP1382-50 µg, ATGP1382-100 µg, ATGP1382-250 µg, ATGP1382-500 µg, ATGP1382-1 mg, ATGP1382-10, ATGP1382-20, ATGP1382-50, ATGP1382-100, ATGP1382-250, ATGP1382-500, ATGP1382-1

References & Citations

Tiranti V. et al. (2009) Nat Med. 15:200-205.; ; Mineri R. et al. (2008) J Med Genet. 45:473-478

Storage Conditions

Can be stored at 2°C to 8°C for 1 week. For long term storage, aliquot and store at -20C to -80C. Avoid repeated freezing and thawing cycles.

Formulation

Liquid in. 20 mM Tris-HCl buffer (pH 8.0) containing 10% glycerol, 0.1M NaCl

Scientific Category

Metabolism

NCBI Accession Number

NP_055112

Uniprot Accession Number

O95571

Species

Human

AA Sequence

LSQRG GSGAPILLRQ MFEPVSCTFT YLLGDRESRE AVLIDPVLET APRDAQLIKE LGLRLLYAVN THCHADHITG SGLLRSLLPG CQSVISRLSG AQADLHIEDG DSIRFGRFAL ETRASPGHTP GCVTFVLNDH SMAFTGDALL IRGCGRTDFQ QGCAKTLYHS VHEKIFTLPG DCLIYPAHDY HGFTVSTVEE ERTLNPRLTL SCEEFVKIMG NLNLPKPQQI DFAVPANMRC GVQTPTA