人 NTHL1 抗体对
01AB04109
Endonuclease III-like protein 1 (NTHL1) is a DNA glycosylase that plays a critical role in the base excision repair (BER) pathway, specifically targeting oxidative DNA damage. It recognizes and removes damaged bases, particularly those caused by reactive oxygen species, thereby maintaining genomic stability. NTHL1 is essential for repairing apurinic/apyrimidinic sites in DNA, which are common lesions that can lead to mutations if left unrepaired. Dysregulation or mutations in the NTHL1 gene have been linked to various diseases, notably a novel predisposition syndrome for colorectal cancer characterized by biallelic inactivation of NTHL1, leading to impaired DNA repair mechanisms. Additionally, loss-of-function mutations in NTHL1 have been associated with increased susceptibility to other cancers due to the accumulation of DNA damage.
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技术参数
- 靶点基因名
- NTHL1
- 基因别名
- NTH1; OCTS3
- 蛋白别名
- nth like DNA glycosylase 1; NTHL1
- UniProt
- P78549
- 物种
- Human
产品详情
- 靶点名称
- NTHL1
- 蛋白名称
- nth like DNA glycosylase 1
- 蛋白别名
- Endonuclease III-like protein 1; hNTH1; Bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase; DNA glycosylase/AP lyase
- 靶点基因名
- NTHL1
- 基因别名
- NTH1; OCTS3
- UniProt
- P78549
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Endonuclease III-like protein 1 (NTHL1) is a DNA glycosylase that plays a critical role in the base excision repair (BER) pathway, specifically targeting oxidative DNA damage. It recognizes and removes damaged bases, particularly those caused by reactive oxygen species, thereby maintaining genomic stability. NTHL1 is essential for repairing apurinic/apyrimidinic sites in DNA, which are common lesions that can lead to mutations if left unrepaired. Dysregulation or mutations in the NTHL1 gene have been linked to various diseases, notably a novel predisposition syndrome for colorectal cancer characterized by biallelic inactivation of NTHL1, leading to impaired DNA repair mechanisms. Additionally, loss-of-function mutations in NTHL1 have been associated with increased susceptibility to other cancers due to the accumulation of DNA damage.