PrimePCR™ Probe Assay: MMACHC, Human

RT

Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

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PrimePCR™ PreAmp for Probe Assay: MMACHC, Human
Reaction:     400 reactions
Gene-specific PCR primers for the unbiased preamplification of small quantities of cDNA for subsequent use in downstream gene expression analysis.

PrimePCR™ Template for Probe Assay: MMACHC, Human
Reaction:     200 x 20 µl reactions
Gene-specific synthetic DNA template designed to give a positive real-time PCR result when used with the corresponding probe assay.


Wet Lab Validated

Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0051729
Assay Design:   exonic
Chromosome Location:   1:45975864-45976011question
Amplicon Length:   118
Splice Variants Targeted:   ENST00000401061

Gene Information

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. [provided by RefSeq Oct 2009]

Gene Symbol:   MMACHC
Gene Name:   methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Aliases:   DKFZp564I122, FLJ25671, RP11-291L19.3, cblC
RefSeq:   NC_000001.10 NG_013378.1 NT_032977.9
Ensembl:   ENSG00000132763
Entrez:   25974
Chromosome Mapping:   1p34.1

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