Anti-MMACHC Antibody Picoband®

SKU: A03398-1

Size: 100 μg

Storage: At -20℃ for one year from date of receipt. After reconstitution, at 4℃ for one month. It can also be aliquotted and stored frozen at -20℃ for six months. Avoid repeated freezing and thawing.

Form: Lyophilized

Reactivity: Human

Applications: WB,Flow Cytometry,ELISA

Application Details: Western blot, 0.25-0.5 μg/ml, Human
Flow Cytometry (Fixed), 1-3 μg/1x10⁶ cells, Human
ELISA, 0.1-0.5 μg/ml, -

Gene Name: MMACHC

Specificity:

Background: Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene. The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC.

Immunogen: E.coli-derived human MMACHC recombinant protein (Position: M1-K242).

Clonality: Polyclonal

Contents: Each vial contains 4 mg Trehalose, 0.9 mg NaCl, 0.2 mg Na2HPO4.

Purification: Immunogen affinity purified.

Reconstitution: Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.

Reference: 1. Ben-Omran, T. I., Wong, H., Blaser, S., Feigenbaum, A. Late-onset cobalamin-C disorder: a challenging diagnosis. Am. J. Med. Genet. 143A: 979-984, 2007. 2. Bodamer, O. A. F., Rosenblatt, D. S., Appel, S. H., Beaudet, A. L. Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Neurology 56: 1113 only, 2001. 3. Collison, F. T., Xie, Y., Gambin, T., Jhangiani, S., Muzny, D., Gibbs, R., Lupski, J. R., Fishman, G. A., Allikmets, R. Whole exome sequencing identifies an adult-onset case of methylmalonic aciduria and homocystinuria type C (clbC) with non-syndromic bull's eye maculopathy. Ophthal. Genet. 36: 270-275, 2015.

Uniprot ID: Q9Y4U1

Host: Rabbit

Concentration: Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.

Conjugate:

Cross Reactivity: No cross-reactivity with other proteins.

Isotype: Rabbit IgG

Phospho_site:

Clone Number:

Observed Molecular Weight: 32 kDa

Calculated Molecular Weight:

Gene ID: 25974

Protein Name: Cyanocobalamin reductase / alkylcobalamin dealkylase

Gene Full Name: metabolism of cobalamin associated C

Synonyms: cblC; MMACHC; RP11 291L19.3