This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| BCKDHB-20-RE | 20 (40 μL) | 200 μL |  |
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| BCKDHB-20-OR | 20 (40 μL) | 200 μL |  |
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| BCKDHB-20-GO | 20 (40 μL) | 200 μL |  |
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| BCKDHB-20-GR | 20 (40 μL) | 200 μL |  |
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| BCKDHB-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Symbol : BCKDHB
Gene Name : Branched chain keto acid dehydrogenase E1 subunit beta
Chromosome : CHR 6: 801,066,09-804,690,87
Locus : 6q14.1
Alt. Genes : PREB
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