Analytical Data
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Gene name
MMACHC
- Application
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Alternative Names
MMACHC;Cyanocobalamin reductase / alkylcobalamin dealkylase
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Species
Human
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Source
E. coli
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Tag
His tag N-Terminus
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Purity
Greater than 90% as determined by SDS-PAGE.
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Uniprot
Q9Y4U1
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Expression Region
1-282aa
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AA Sequence
MGSSHHHHHH SSGLVPRGSH MGSHMEPKVA ELKQKIEDTL CPFGFEVYPF QVAWYNELLP PAFHLPLPGP TLAFLVLSTP AMFDRALKPF LQSCHLRMLT DPVDQCVAYH LGRVRESLPE LQIEIIADYE VHPNRRPKIL AQTAAHVAGA AYYYQRQDVE ADPWGNQRIS GVCIHPRFGG WFAIRGVVLL PGIEVPDLPP RKPHDCVPTR ADRIALLEGF NFHWRDWTYR DAVTPQERYS EEQKAYFSTP PAQRLALLGL AQPSEKPSSP SPDLPFTTPA PKKPGNPSRA RSWLSPRVSP PASPGP
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Molecular Weight
34 kDa
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Endotoxin
< 1.0 EU per μg protein as determined by the LAL method.
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Form
Freeze-dried powder
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Buffer formulation
PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300.
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Reconstitution
Reconstitute in ddH2O to a concentration of 0.1-0.5 mg/mL. Do not vortex.
- Customization
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Stability Test
The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37℃ for 48h, and no obvious degradation and precipitation were observed. The loss rate isless than 8% within the expiration date under appropriate storage condition.
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Storage & Shelf Life
Samples are stable for up to twelve months from date of receipt at -20℃ to -80℃. Store it under sterile conditions at -20℃ to -80℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
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Shipping
In general, recombinant proteins are supplied as lyophilized powder and shipped at ambient temperature. For bulk packages, the proteins are provided as frozen liquid and shipped with blue ice, unless otherwise requested by the customer.
Quality inspection process
Related Products
Protein Description
MMACHC (Methylmalonic Aciduria and Homocystinuria, CblC Type) is a crucial enzyme involved in the metabolism of vitamin B12 (cobalamin), playing an essential role in cellular processes. Deficiencies in MMACHC activity lead to a metabolic disorder characterized by elevated levels of methylmalonic acid and homocysteine in the body, resulting in severe neurological and developmental issues. Understanding the structure and function of the MMACHC protein is vital for developing potential treatments for patients affected by this condition. Recent research has focused on the recombinant expression of MMACHC, which allows for the study of its biochemical properties, interactions with other cellular components, and the mechanisms of cobalamin-related metabolic pathways. Furthermore, this approach provides insights into the molecular basis of MMACHC deficiency, aiding in the design of targeted therapies and improving diagnostic techniques. The development of recombinant MMACHC also paves the way for potential gene therapy strategies and enzyme replacement therapies, which could significantly alleviate the clinical symptoms associated with MMACHC-related disorders. By elucidating the structure-function relationships of this protein, researchers aspire to contribute to novel therapeutic innovations that could enhance the quality of life for affected individuals.
