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MMADHC Recombinant Protein

For Research Use Only. Not for use in diagnostic procedures. Catalog #: MBS205756

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… More details

$230 / 0.02 mg +1 FREE 8GB USB
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Testing Data View PDF
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Material Safety Data Sheet View PDF
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Technical Datasheet View PDF
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Protocol View PDF

Product Overview

Online Datasheet in PDF
Product Name
MMADHC, Recombinant Protein
Full Product Name
MMADHC, 39-296aa, Human, His tag, E Coli
Product Synonym Names
Methylmalonic aciduria and homocystinuria type D protein; C2orf25; cblD; CL25022
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
Host
E Coli
Form/Format
Liquid. In 20mM Tris-HCl Buffer (pH 8.0) containing 0.15M NaCl, 10% glycerol, 1mM DTT.
Purity/Purification
> 90% by SDS-PAGE
Concentration
1 mg/ml (determined by Bradford assay) (lot specific)
Preparation and Storage
Can be stored at 4 degree C short term (1-2 weeks).
For long term storage, aliquot and store at -20 degree C or -70 degree C.
Avoid repeated freezing and thawing cycles.
Molecular Weight
31 kDa (281aa) confirmed by MALDI-TOF
OMIM
AF060224 mRNA
3D Structure
ModBase 3D Structure for Q9H3L0
Antigen Species
Human
Tag Information
His-tag

Product Categories/Family for MMADHC recombinant protein

Applications Tested/Suitable for MMADHC recombinant protein
SDS-PAGE

Product References and Citations for MMADHC recombinant protein

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

Other Notes

Small volumes of MMADHC recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Searchable Terms for MMADHC purchase

MBS205756 is a recombinant protein targeting MMADHC. Also known as MMADHC, 39-296aa, Human, His tag, E Coli. Host: E Coli.

Additional Details

NCBI/Uniprot data below describe general gene information for MMADHC. It may not necessarily be applicable to this product.

NCBI GI #
NCBI GeneID
NCBI Accession #
UniProt Primary Accession #
UniProt Secondary Accession #
UniProt Related Accession #
GenBank Nucleotide #
NCBI Official Full Name
methylmalonic aciduria and homocystinuria type D protein, mitochondrial
NCBI Official Synonym Full Names
methylmalonic aciduria and homocystinuria, cblD type
NCBI Official Symbol
MMADHC
NCBI Official Synonym Symbols
cblD; C2orf25; CL25022
UniProt Protein Name
Methylmalonic aciduria and homocystinuria type D protein, mitochondrial
UniProt Synonym Protein Names
CblD
UniProt Gene Name
MMADHC
UniProt Synonym Gene Names
C2orf25; CL25022
NCBI Protein Information
methylmalonic aciduria and homocystinuria type D protein, mitochondrial

NCBI Summary for MMADHC

This gene encodes 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. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
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UniProt Comments for MMADHC

Involved in cobalamin metabolism (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin (PubMed:18385497, PubMed:24722857). Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin (PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851).
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Precautions

All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.

Disclaimer

While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.

Product Note

Select online data sheet information is drawn from bioinformatics databases, occasionally resulting in ambiguous or non-relevant product information. It is the responsibility of the customer to review, verify, and evaluate the information to make sure it matches their requirements before purchasing the kit. Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual, it is intended to serve as an example only. Please refer to the instructions For Use provided with the assay kit for precise details.

Product PubMed Publications

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