DMGDH Antibody

Catalog Number:

34646

Amount:

100μg

Price:

$319

Swiss-Prot No:

Swiss-Prot: Q9UI17
NCBI Gene ID: 29958

Form of Antibody:

Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.

Storage/Stability:

Immunogen:

Synthesized peptide derived from C-terminal of human DMGDH.

Purification:

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Specificity/Sensitivity:

The antibody detects endogenous levels of total DMGDH protein.

Applications:

WB

Background:

This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants.

Binzak B.A., Mol. Genet. Metab. 69:181-187(2000).
Binzak B.A., Am. J. Hum. Genet. 68:839-847(2001).
Moolenaar S.H., Clin. Chem. 45:459-464(1999)

References:

appl_detail:

Western blotting: 1:500~1:3000

Datasheet PDF