MMADHC Human
目录号 : GP23933Methylmalonic Aciduria cblD type, with Homocystinuria Human Recombinant
Sample solution is provided at 25 µL, 10mM.
Purity | Greater than 90% as determined by SDS-PAGE. | Source | Escherichia Coli. |
Phycical Appearance | Sterile Filtered clear solution. | Shipping Condition | Shipped with Ice Packs. |
Synonyms | Chromosome 2 Open Reading Frame 25; Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type With Homocystinuria; Methylmalonic Aciduria And Homocystinuria Type D Protein Mitochondrial; Protein C2orf25 Mitochondrial; CL25022; C2orf25; cblD. | ||
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 | ||
Stability | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. | ||
Formulation | The MMADHC solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 0.15M NaCl, 1mM DTT and 10% glycerol. |
MMADHC is a mitochondrial protein which takes part in an early step of vitamin B1 2 metabolism. Vitamin B12 (cobalamin) is vital for regular development and existence in humans. Mutations in MMADHC can result in methylmalonic aciduria and homocystinuria type cblD, a cobalamin metabolism syndrome which is characterized by decreased levels of the coenzymes methylcobalamin and adenosylcobalamin.
Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.