BackgroundThis 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.
DescriptionMMADHC Polyclonal Antibody. Unconjugated. Raised in: Rabbit.
FormulationBuffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
SpecificityHuman, Mouse, Rat
IsotypeIgG
Uniprot IDQ9H3L0
PurificationAffinity Purification
ImmunogenRecombinant fusion protein containing a sequence corresponding to amino acids 1-296 of human MMADHC (NP_056517.1).
StorageShipped at 4°C. Upon receipt, store at -20°C. Avoid freeze / thaw cycles
Alternative NamesMMADHC; C2orf25; CL25022; cblD; methylmalonic aciduria and homocystinuria, cblD type
ApplicationWB; Recommended dilution: WB 1:500 - 1:2000