The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| MMAA-20-RE | 20 (40 μL) | 200 μL |  |
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| MMAA-20-OR | 20 (40 μL) | 200 μL |  |
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| MMAA-20-GO | 20 (40 μL) | 200 μL |  |
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| MMAA-20-GR | 20 (40 μL) | 200 μL |  |
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| MMAA-20-AQ | 20 (40 μL) | 200 μL |  |
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The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Gene Symbol : MMAA
Gene Name : Methylmalonic aciduria (cobalamin deficiency) cblA type
Chromosome : CHR 4: 145,619,387-145,660,034
Locus : 4q31.21
Alt. Genes : ENAM
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