Recombinant humaan ETHE1-eiwit

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.

Protein ETHE1 mitochondrial, Protein ETHE1, mitochondrial

E.coli

Human

His-Tag

SDS-PAGE

1 mg/mL (determined by Bradford assay)

> 90% by SDS-PAGE

29.1 kDa (267aa) confirmed by MALDI-TOF

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

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

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.

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

Metabolism

NP_055112

O95571

Human

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