This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| BCAT1-20-RE | 20 (40 μL) | 200 μL |  |
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| BCAT1-20-OR | 20 (40 μL) | 200 μL |  |
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| BCAT1-20-GO | 20 (40 μL) | 200 μL |  |
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| BCAT1-20-GR | 20 (40 μL) | 200 μL |  |
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| BCAT1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]
Gene Symbol : BCAT1
Gene Name : Branched chain amino acid transaminase 1
Chromosome : CHR 12: 249,494,58-248,100,23
Locus : 12p12.1
Alt. Genes : RBM12
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