The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
% SDS-PAGE. ab99217 was purified using conventional chromatography techniques.
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Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Constituents: 10% Glycerol, 20mM Tris HCl, pH 7.5
aquocob(I)alamin vitamin B12s adenosyltransferase
Cob(I)yrinic acid a
cob(I)yrinic acid a c diamide adenosyltransferase mitochondrial
Methylmalonic aciduria (cobalamin deficiency) cblB type
Methylmalonic aciduria type B protein
組織特異性Expressed in liver and skeletal muscle.
パスウェイCofactor biosynthesis; adenosylcobalamin biosynthesis; adenosylcobalamin from cob(II)yrinate a,c-diamide: step 2/7.
関連疾患Defects in MMAB are the cause of methylmalonic aciduria type cblB (MMAB) [MIM:251110]; 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.
配列類似性Belongs to the Cob(I)alamin adenosyltransferase family.