Product Name
Methylmalonic Aciduria Type B (MMAB), Recombinant Protein
Full Product Name
Recombinant Human Methylmalonic Aciduria Type B
Product Synonym Names
MMAB Human; Methylmalonic Aciduria Type B Human Recombinant; CBIB; Cob(I)alamin adenosyltransferase; EC 2.5.1.17
Product Gene Name
MMAB recombinant protein
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
MGSSHHH HHH SSGLVPRGSH MQSRGP QGVE DGDRPQPSSK TPRIPKIYTK TGDKGFSSTF TGERRPKDDQ VFEAVGTTDE LSSAIGFALE LVTEKGHTFA EELQKIQCTL QDVGSALATP CSSAREAHLK YTTFKAGPIL ELEQWIDKYT SQLPPLTAFI LPSGGKISSA LHFCRAVCRR AERRVVPLVQ MGETDANVAK FLNRLSDYLF TLARYAAMKE GNQEKIYKKN DPSAESEGL
3D Structure
ModBase 3D Structure for Q96EY8
Purity/Purification
Greater than 95.0% as determined by SDS-PAGE.
Form/Format
MMAB 1mg/ml protein solution contains 20mM Tris pH-7.5 & 10% glycerol.
Sterile Filtered clear solution.
Preparation and Storage
MMAB Human although stable at 4 degree C for 1 week, should be stored below -18 degree C. Please prevent freeze thaw cycles.
Other Notes
Small volumes of MMAB 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.
Related Product Information for
MMAB recombinant protein
Description: MMAB Recombinant Human produced in E Coli is a single, non-glycosylated polypeptide chain containing 239 amino acids (33-250 a.a.) and having a molecular mass of 26.3 kDa. The MMAB is fused to 21 amino acid His-Tag at N-terminus and purified by proprietary chromatographic techniques.
Introduction: MMAB protein catalyzes the last step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12 containing coenzyme for methylmalonyl-CoA mutase(MCM). Decreased MMAB activity leads to the inherited disorder vitamin B12 dependent methylmalonic aciduria linked to the cblB complementation group.
Product Categories/Family for MMAB recombinant protein
ENZYMES; Enzymes; Transferase
NCBI/Uniprot data below describe general gene information for MMAB. It may not necessarily be applicable to this product.
NCBI Accession #
NP_443077.1
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NCBI GenBank Nucleotide #
NM_052845.3
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UniProt Primary Accession #
Q96EY8
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UniProt Secondary Accession #
Q9BSH0; C5HU05[Other Products]
UniProt Related Accession #
Q96EY8[Other Products]
Molecular Weight
27,388 Da
NCBI Official Full Name
cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial
NCBI Official Synonym Full Names
methylmalonic aciduria (cobalamin deficiency) cblB type
NCBI Official Symbol
MMAB [Similar Products]
NCBI Official Synonym Symbols
ATR; cob; cblB; CFAP23
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NCBI Protein Information
cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial; cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial; ATP:cob(I)alamin adenosyltransferase; ATP:corrinoid adenosyltransferase; aquocob(I)alamin vitamin B12s adenosyltransferase; cilia and flagella associated protein 23; methylmalonic aciduria type B protein
UniProt Protein Name
Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial
UniProt Synonym Protein Names
Cob(I)alamin adenosyltransferase; Methylmalonic aciduria type B protein
UniProt Gene Name
MMAB [Similar Products]
UniProt Entry Name
MMAB_HUMAN
NCBI Summary for MMAB
This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
UniProt Comments for MMAB
MMAB: Defects in MMAB are the cause of methylmalonic aciduria type cblB (MMAB); also known as methylmalonic aciduria type B or vitamin B12-responsive methylmalonicaciduria of cblB complementation type. MMAB is a disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive. Belongs to the Cob(I)alamin adenosyltransferase family.
Protein type: Motility/polarity/chemotaxis; EC 2.5.1.17; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Transferase
Chromosomal Location of Human Ortholog: 12q24
Cellular Component: mitochondrial matrix
Molecular Function: cob(I)yrinic acid a,c-diamide adenosyltransferase activity; ATP binding
Biological Process: vitamin metabolic process; cobalamin biosynthetic process; cobalamin metabolic process; water-soluble vitamin metabolic process
Disease: Methylmalonic Aciduria, Cblb Type
Research Articles on MMAB
1. A [p.C4X]), were identified in all members of the cblB cohort.">MMAB mutations, including one novel nonsense mutation (c.12 C>A [p.C4X]), were identified in all members of the cblB cohort.
Precautions
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Disclaimer
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