Overview
- SupplierGeneTex
- Product NameHuman BCAT1 protein
- Delivery Days Customer10
- CertificationResearch Use Only
- Scientific DescriptionThis 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]
- Storage Instruction2°C to 8°C,-20°C
- UNSPSC41116133