MMADHC, 39-296aa, Human

Category: Proteins
Catalog
01-P2529
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Product Name MMADHC, 39-296aa, Human
Description MMADHC is a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Recombinant human MMADHC protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.
Synonyms Methylmalonic aciduria and homocystinuria type D protein, C2orf25, cblD, CL25022
Host E.coli
Molecular Weight 48.6kDa (437aa)
Amino Acid Sequence MGSSHHHHHH SSGLVPRGSH MGSSDESHVA AAPPDICSRT VWPDETMGPF GPQDQRFQLP GNIGFDCHLN GTASQKKSLV HKTLPDVLAE PLSSERHEFV MAQYVNEFQG NDAPVEQEIN SAETYFESAR VECAIQTCPE LLRKDFESLF PEVANGKLMI LTVTQKTKND MTVWSEEVEI EREVLLEKFI NGAKEICYAL RAEGYWADFI DPSSGLAFFG PYTNNTLFET DERYRHLGFS VDDLGCCKVI RHSLWGTHVV VGSIFTNATP DSHIMKKLSG N
Tag His-tag
Reactivity Human
Applications SDS-PAGE
Form Liquid, in 20mM Tris-HCl buffer (pH 8.0) containing 0.4M UREA, 10% glycerol
Concentration 0.5 mg/ml (determined by Bradford assay)
Purity > 90% by SDS-PAGE
Storage Can be stored at +4C short term (1-2 weeks). For long term storage, aliquot and store at -20C or -70C. Avoid repeated freezing and thawing cycles.
References Coelho D, Suormala T, et al. (2008). N Engl J Med. 358(14):1454-64.
Supplier ARP

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