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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| MMACHC-20-RE | 20 (40 μL) | 200 μL |  |
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| MMACHC-20-OR | 20 (40 μL) | 200 μL |  |
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| MMACHC-20-GO | 20 (40 μL) | 200 μL |  |
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| MMACHC-20-GR | 20 (40 μL) | 200 μL |  |
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| MMACHC-20-AQ | 20 (40 μL) | 200 μL |  |
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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
Chromosome : CHR 1: 455,001,83-455,112,65
Locus : 1p34.1
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