This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| BOLA3-20-RE | 20 (40 μL) | 200 μL |  |
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| BOLA3-20-OR | 20 (40 μL) | 200 μL |  |
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| BOLA3-20-GO | 20 (40 μL) | 200 μL |  |
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| BOLA3-20-GR | 20 (40 μL) | 200 μL |  |
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| BOLA3-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]
Gene Symbol : BOLA3
Gene Name : BolA family member 3
Chromosome : CHR 2: 741,479,11-741,354,00
Locus : 2p13.1
Alt. Genes : HIPK3
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