Recombinant Human MMADHC protein (ab162126)
Key features and details
- Expression system: Wheat germ
- Tags: GST tag N-Terminus
- Suitable for: ELISA, WB
Description
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Product name
Recombinant Human MMADHC protein -
Expression system
Wheat germ -
Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
MANVLCNRARLVSYLPGFCSLVKRVVNPKAFSTAGSSGSDESHVAAAPPD ICSRTVWPDETMGPFGPQDQRFQLPGNIGFDCHLNGTASQKKSLVHKTLP DVLAEPLSSERHEFVMAQYVNEFQGNDAPVEQEINSAETYFESARVECAI QTCPELLRKDFESLFPEVANGKLMILTVTQKTKNDMTVWSEEVEIEREVL LEKFINGAKEICYALRAEGYWADFIDPSSGLAFFGPYTNNTLFETDERYR HLGFSVDDLGCCKVIRHSLWGTHVVVGSIFTNATPDSHIMKKLSGN -
Amino acids
1 to 296 -
Tags
GST tag N-Terminus
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Specifications
Our Abpromise guarantee covers the use of ab162126 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
ELISA
Western blot
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Form
Liquid -
Additional notes
This product was previously labelled as C2ORF25.
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Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.31% Glutathione, 0.79% Tris HCl
General Info
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Alternative names
- C2orf25
- cblD
- Chromosome 2 open reading frame 25
see all -
Function
Involved in cobalamin metabolism. -
Tissue specificity
Widely expressed at high levels. -
Involvement in disease
Defects in MMADHC are the cause of methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]. A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2). -
Cellular localization
Mitochondrion. - Information by UniProt
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
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Datasheet download
References (0)
ab162126 has not yet been referenced specifically in any publications.