人 RNASEH2C 抗体对
01AB02890
Ribonuclease H2 subunit C (RNASEH2C) is the non-catalytic component of the heterotrimeric RNase H2 complex, which degrades RNA:DNA hybrids and removes misincorporated ribonucleotides to maintain genomic stability. Structurally, RNASEH2C is integral to the formation of the complex's triple beta-barrel core, ensuring the stability and enzymatic activity of the catalytic subunit. Biallelic loss-of-function mutations in RNASEH2C cause Aicardi-Goutières syndrome type 3 (AGS3), an autoinflammatory encephalopathy characterized by severe neurological dysfunction, intracranial calcifications, and leukodystrophy. These defects lead to the accumulation of endogenous nucleic acids, triggering aberrant type I interferon-mediated immune responses.
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技术参数
- 靶点基因名
- RNASEH2C
- 基因别名
- AYP1
- 蛋白别名
- ribonuclease H2 subunit C; RNASEH2C
- UniProt
- Q8TDP1
- 物种
- Human
产品详情
- 靶点名称
- RNASEH2C
- 蛋白名称
- ribonuclease H2 subunit C
- 蛋白别名
- Ribonuclease H2 subunit C; RNase H2 subunit C; Aicardi-Goutieres syndrome 3 protein; AGS3; RNase H1 small subunit; Ribonuclease HI subunit C
- 靶点基因名
- RNASEH2C
- 基因别名
- AYP1
- UniProt
- Q8TDP1
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Ribonuclease H2 subunit C (RNASEH2C) is the non-catalytic component of the heterotrimeric RNase H2 complex, which degrades RNA:DNA hybrids and removes misincorporated ribonucleotides to maintain genomic stability. Structurally, RNASEH2C is integral to the formation of the complex's triple beta-barrel core, ensuring the stability and enzymatic activity of the catalytic subunit. Biallelic loss-of-function mutations in RNASEH2C cause Aicardi-Goutières syndrome type 3 (AGS3), an autoinflammatory encephalopathy characterized by severe neurological dysfunction, intracranial calcifications, and leukodystrophy. These defects lead to the accumulation of endogenous nucleic acids, triggering aberrant type I interferon-mediated immune responses.