This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| BCS1LBA-20-REGO | 20 (40 μL) | 200 μL |
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| BCS1LBA-20-REGR | 20 (40 μL) | 200 μL |
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| BCS1LBA-20-ORGR | 20 (40 μL) | 200 μL |
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| BCS1LBA-20-GOGR | 20 (40 μL) | 200 μL |
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| BCS1LBA-20-GRRE | 20 (40 μL) | 200 μL |
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| BCS1LBA-20-GROR | 20 (40 μL) | 200 μL |
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| BCS1LBA-20-GRGO | 20 (40 μL) | 200 μL |
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| BCS1LBA-20-AQOR | 20 (40 μL) | 200 μL |
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This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]
Gene Symbol : BCS1L
Gene Name : BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
Chromosome : CHR 2: 218,659,655-218,663,442
Locus : 2q35
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