抗人 BCAT2 抗体对
01AB00703
Branched Chain Amino Acid Transaminase 2 (BCAT2) is a mitochondrial enzyme that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. It is encoded by the BCAT2 gene located on chromosome 19q13.33. BCAT2 is crucial for the transamination of branched-chain amino acids to their respective alpha-keto acids, playing a pivotal role in their metabolism. The enzyme is a homodimer composed of two domains, with a small and large subunit connected by a short looping region, and it requires the cofactor pyridoxal-5'-phosphate (PLP) for activity. Mutations in the BCAT2 gene have been associated with hypervalinemia and hyperleucine-isoleucinemia (HVLI), a condition characterized by elevated plasma levels of valine and leucine. For example, compound heterozygous missense mutations (R170Q and E264K) in the BCAT2 gene have been identified in patients with HVLI, leading to diminished enzyme activity.
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技术参数
- 靶点基因名
- BCAT2
- 基因别名
- BCATM; BCT2; ECA40
- 蛋白别名
- branched chain amino acid transaminase 2; BCAT2
- UniProt
- O15382
- 物种
- Human
产品详情
- 靶点名称
- BCAT2
- 蛋白名称
- branched chain amino acid transaminase 2
- 蛋白别名
- Branched-chain-amino-acid aminotransferase; mitochondrial; BCAT(m); Placental protein 18; PP18
- 靶点基因名
- BCAT2
- 基因别名
- BCATM; BCT2; ECA40
- UniProt
- O15382
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Branched Chain Amino Acid Transaminase 2 (BCAT2) is a mitochondrial enzyme that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. It is encoded by the BCAT2 gene located on chromosome 19q13.33. BCAT2 is crucial for the transamination of branched-chain amino acids to their respective alpha-keto acids, playing a pivotal role in their metabolism. The enzyme is a homodimer composed of two domains, with a small and large subunit connected by a short looping region, and it requires the cofactor pyridoxal-5'-phosphate (PLP) for activity. Mutations in the BCAT2 gene have been associated with hypervalinemia and hyperleucine-isoleucinemia (HVLI), a condition characterized by elevated plasma levels of valine and leucine. For example, compound heterozygous missense mutations (R170Q and E264K) in the BCAT2 gene have been identified in patients with HVLI, leading to diminished enzyme activity.