Overview
| 别名 | Glycine cleavage system H protein; mitochondrial; Lipoic acid-containing protein |
| 基因名 | GCSH |
| UniProt ID | P23434 |
| 反应种属 | Human |
| 应用 | WB,IHC-P |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG2a |
| 克隆号 | 9T9-Y7-Z4 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 18 kDa |
| 纯化方式 | Affinity Purified |
| 产品形式 | Liquid |
| 推荐稀释比 | WB-1:1000; IHC-1:200-1:250 |
| 存储缓冲液 | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.09% sodium azide |
| 保存温度 | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| 背景信息 | Glycine cleavage system protein H (GCSH) is a mitochondrial lipoylated carrier protein that serves as a core component of the glycine cleavage system, the primary pathway for glycine degradation in mammals. GCSH functions by shuttling the methylamine group of glycine from the pyridoxal phosphate-dependent P protein to the tetrahydrofolate-dependent T protein, facilitating oxidative decarboxylation and the transfer of one-carbon units into folate metabolism. This process requires covalent modification with lipoic acid. Clinically, pathogenic variants in GCSH result in glycine encephalopathy, also known as nonketotic hyperglycinemia. This condition is characterized by elevated glycine levels, neonatal hypotonia, and seizures, often leading to severe developmental delays or early lethality due to disturbed folate metabolism and embryonic development. |
检测原理