Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| C21ORF2-20-RE | 20 (40 μL) | 200 μL |  |
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| C21ORF2-20-OR | 20 (40 μL) | 200 μL |  |
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| C21ORF2-20-GO | 20 (40 μL) | 200 μL |  |
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| C21ORF2-20-GR | 20 (40 μL) | 200 μL |  |
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| C21ORF2-20-AQ | 20 (40 μL) | 200 μL |  |
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Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
Gene Symbol : C21ORF2
Gene Name : Chromosome 21 open reading frame 2
Chromosome : CHR 21: 443,394,16-443,289,43
Locus : 21q22.3
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