Recombinant humaan MMADHC-eiwit

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.

Methylmalonic aciduria and homocystinuria type D protein, Metabolism of cobalamin associated D, CL25022, cblD, C2orf25

E.coli

Human

His-Tag

SDS-PAGE

1 mg/mL (determined by Bradford assay)

> 90% by SDS-PAGE

31 kDa (281aa) confirmed by MALDI-TOF

MMADHC, Methylmalonic aciduria and homocystinuria type D protein, C2orf25, cblD, CL25022, ATGP2529-10 µg, ATGP2529-20 µg, ATGP2529-50 µg, ATGP2529-100 µg, ATGP2529-250 µg, ATGP2529-500 µg, ATGP2529-1 mg, ATGP2529-10, ATGP2529-20, ATGP2529-50, ATGP2529-100, ATGP2529-250, ATGP2529-500, ATGP2529-1

Coelho D, Suormala T, et al. (2008) . N Engl J Med. 358 (14) :1454-64.

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 0.15M NaCl, 10% glycerol, 1mM DTT

Metabolism

NP_056517

Q9H3L0

Human

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