抗人 DTYMK 抗体对
01AB01959
Deoxythymidylate kinase (DTYMK) is a ubiquitously expressed ATP-dependent kinase that catalyzes the phosphorylation of deoxythymidine monophosphate to deoxythymidine diphosphate. This reaction is a fundamental step in pyrimidine metabolism and the biosynthesis of deoxythymidine triphosphate, which is essential for nuclear and mitochondrial DNA replication and repair. Loss-of-function variants in DTYMK lead to a severe autosomal recessive neurodevelopmental disorder characterized by childhood-onset neurodegeneration, progressive microcephaly, and epilepsy. These clinical manifestations result from impaired DNA synthesis and genome instability. Additionally, dysregulated DTYMK activity is associated with oncogenic processes and poor prognosis in hepatocellular carcinoma, highlighting its role in maintaining nucleotide homeostasis in both developmental and neoplastic contexts.
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技术参数
- 靶点基因名
- DTYMK
- 基因别名
- CDC8; TMPK; TYMK
- 蛋白别名
- deoxythymidylate kinase; DTYMK
- UniProt
- P23919
- 物种
- Human
产品详情
- 靶点名称
- DTYMK
- 蛋白名称
- deoxythymidylate kinase
- 蛋白别名
- Thymidylate kinase; dTMP kinase
- 靶点基因名
- DTYMK
- 基因别名
- CDC8; TMPK; TYMK
- UniProt
- P23919
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Deoxythymidylate kinase (DTYMK) is a ubiquitously expressed ATP-dependent kinase that catalyzes the phosphorylation of deoxythymidine monophosphate to deoxythymidine diphosphate. This reaction is a fundamental step in pyrimidine metabolism and the biosynthesis of deoxythymidine triphosphate, which is essential for nuclear and mitochondrial DNA replication and repair. Loss-of-function variants in DTYMK lead to a severe autosomal recessive neurodevelopmental disorder characterized by childhood-onset neurodegeneration, progressive microcephaly, and epilepsy. These clinical manifestations result from impaired DNA synthesis and genome instability. Additionally, dysregulated DTYMK activity is associated with oncogenic processes and poor prognosis in hepatocellular carcinoma, highlighting its role in maintaining nucleotide homeostasis in both developmental and neoplastic contexts.