Methylmalonic aciduria and homocystinuria type D protein, mitochondrial, MMADHC, C2orf25, CL25022
Product description
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.1) Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)
Immunogen
This MMADHC antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 226-253 amino acids from the C-terminal region of human MMADHC.
Western blot analysis in T47D cell line lysates (35ug/lane).
Application Notes
For WB starting dilution is: 1:1000:
Additional Information
Form
Liquid
Storage Instructions
Store at 4˚C for three months and -20˚C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.