Abcam, ab258518, Human MMADHC knockout HEK-293T cell lysate

Size: 1Kit
MMADHC KO cell lysate available now. KO validated by. Free of charge wild type control included. Knockout achieved by using CRISPR/Cas9, Homozygous: 4 bp deletion in exon 3.
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 4 bp deletion in exon 3.

Product details:
Knockout cell lysate achieved by CRISPR/Cas9.
REACH authorisation
Abcam has not and does not intend to apply for the REACH Authorisation of customers' uses of products that contain European Authorisation list (Annex XIV) substances.
It is the responsibility of our customers to check the necessity of application of REACH Authorisation, and any other relevant authorisations, for their intended uses.
Lysate preparation:
Our lysates are made using RIPA buffer to which we add a protease inhibitor cocktail and phosphatase inhibitor cocktail (ratio: 300:100:10).
This means that the protein of interest is denatured.
If you require a native form of the protein please use the live cell version. Please refer to our lysis protocol for further details on how our lysates are prepared.
User storage instructions:
Lyophilizate may be stored at 4°C. After reconstitution, store at -20°C for short-term storage or -80°C for long-term storage.
This product is subject to limited use licenses from The Broad Institute and ERS Genomics Limited, and is developed with patented technology. For full details of the limited use licenses and relevant patents please refer to our
limited use license
patent pages

Properties and Storage Information:
Gene name-MMADHC, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Zygosity-Homozygous, Shipped at conditions-Ambient - Can Ship with Ice, Appropriate short-term storage conditions--20°C, Appropriate long-term storage conditions--20°C

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
MMADHC also known as methylmalonic aciduria and homocystinuria cblD type is a protein involved in the metabolism of vitamin B12. It has a molecular weight of approximately 32 kDa. MMADHC is expressed in various tissues including liver kidney and brain. It acts as a chaperone-like factor that helps direct cobalamin into the cytosol and mitochondrian important for vitamin B12-associated reactions.
Biological function summary
MMADHC plays a role in the intracellular processing of vitamin B12. It is not part of a complex but interacts closely with the mitochondrial methylmalonyl-CoA mutase and cytosolic methionine synthase pathways. By assisting in cobalamin transport it enables the conversion of methylmalonic acid to succinyl-CoA and homocysteine to methionine therefore supporting essential cellular reactions.
Pathways
MMADHC contributes to the cobalamin metabolic pathway and the methionine metabolism pathway. In the cobalamin pathway it works alongside proteins like MMACHC and MCM to facilitate vitamin B12 metabolism. It ensures that vitamin B12 reaches its target enzymes efficiently which is vital for methylation processes and energy production pathways in the mitochondria.
Mutations in MMADHC are linked to methylmalonic aciduria with homocystinuria cblD type. This disorder results from improper processing of vitamin B12 and often leads to neurological and metabolic complications. The protein is associated with disorders involving defective cobalamin metabolism alongside MMACHC highlighting its key role in maintaining normal vitamin B12-dependent enzyme function.