抗人 Matrin-3 抗体对
01AB01224
Matrin 3 (MATR3) is a nuclear matrix protein encoded by the MATR3 gene, primarily localized in the nucleus where it contributes to nuclear organization and structural support. It is an intrinsically disordered RNA-binding protein involved in various aspects of nucleic acid metabolism, including transcription regulation, alternative splicing, mRNA stabilization and export, nuclear retention of hyperedited RNA, and RNA silencing and degradation. MATR3 interacts with numerous RNA processing proteins, such as TDP-43 and FUS, and is thought to play a role in repressing cryptic exon inclusions and regulating the DNA damage response. Mutations in MATR3, notably the Ser85Cys (S85C) variant, are linked to distal myopathy 2, characterized by muscle and vocal cord weakness, and have also been implicated in neurodegenerative diseases like amyotrophic lateral sclerosis (ALS).
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技术参数
- 靶点基因名
- MATR3
- 基因别名
- KIAA0723
- 蛋白别名
- matrin 3; Matrin-3
- UniProt
- P43243
- 物种
- Human
产品详情
- 靶点名称
- Matrin-3
- 蛋白名称
- matrin 3
- 蛋白别名
- Matrin-3
- 靶点基因名
- MATR3
- 基因别名
- KIAA0723
- UniProt
- P43243
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Matrin 3 (MATR3) is a nuclear matrix protein encoded by the MATR3 gene, primarily localized in the nucleus where it contributes to nuclear organization and structural support. It is an intrinsically disordered RNA-binding protein involved in various aspects of nucleic acid metabolism, including transcription regulation, alternative splicing, mRNA stabilization and export, nuclear retention of hyperedited RNA, and RNA silencing and degradation. MATR3 interacts with numerous RNA processing proteins, such as TDP-43 and FUS, and is thought to play a role in repressing cryptic exon inclusions and regulating the DNA damage response. Mutations in MATR3, notably the Ser85Cys (S85C) variant, are linked to distal myopathy 2, characterized by muscle and vocal cord weakness, and have also been implicated in neurodegenerative diseases like amyotrophic lateral sclerosis (ALS).