人 GCSH 抗体对
01AB02665
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.
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技术参数
- 靶点基因名
- GCSH
- 蛋白别名
- glycine cleavage system protein H; GCSH
- UniProt
- P23434
- 物种
- Human
产品详情
- 靶点名称
- GCSH
- 蛋白名称
- glycine cleavage system protein H
- 蛋白别名
- Glycine cleavage system H protein; mitochondrial; Lipoic acid-containing protein
- 靶点基因名
- GCSH
- UniProt
- P23434
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
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.