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.
Immunogen Information
Immunogen
Recombinant fusion protein of human MMADHC
Gene ID
27249
Swissprot
Q9H3L0
Synonyms
MMADHCC2orf25CL25022cblDcblD type
Calculated MW
51kDa/60kDa
Observed MW
75kDa
Applications
Reactivity
Human,Mouse,Rat
Tested Applications
WB
Conjugation
Unconjugated
Dilution
WB 1:500-1:2000
Concentration
1mg/mL
Storage Buffer
PBS with 0.01% thiomersal,50% glycerol,pH7.3.
Storage Instructions
Store at -20°C Valid for 12 months. Avoid freeze / thaw cycles.