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| Catalog # | Availability | Size | Quantity | Unit Price | Save For Later Wish List | |
|---|---|---|---|---|---|---|
| RCP1375-5 | 7 days | 5 µg | $120.00 |
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| RCP1375-20 | 7 days | 20 µg | $290.00 | |||
| RCP1375-1 | 7 days | 1 mg | $4,320.00 |
Product Overview | |
| Name | MMACHC Human |
|---|---|
| Description | |
| Methylmalonic Aciduria cblC type, with Homocystinuria Human Recombinant | |
| Accession (Primary) | Q9Y4U1 |
| 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. | |
| Introduction | |
| 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. | |
| Source | |
| Escherichia Coli. | |
| Physical Appearance | |
| Sterile Filtered clear solution. | |
| Formulation | |
| The MMADHC solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 0.15M NaCl, 1mM DTT and 10% glycerol. | |
| 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. | |
| Purity | |
| Greater than 90% as determined by SDS-PAGE. | |
| Amino acid sequence | |
| MGSSHHHHHH SSGLVPRGSH MGS SDESHVA 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 | |
| Precautions | |
| MMACHC Human is for research use only and not for use in diagnostic or therapeutic procedures. | |
Target Information: ( Q9Y4U1 ) | |
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ADMEbio Team
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