人 TCEAL1 抗体对
01AB02698
Transcription elongation factor A like 1 (TCEAL1) is a nuclear phosphoprotein belonging to the transcription elongation factor A (SII)-like family. Encoded by an X-linked gene, the protein contains an arginine/serine-rich region, a zinc finger-like motif, and a C-terminal helix-turn-helix-like region. TCEAL1 modulates the transcription of various cellular and viral promoters through protein-protein interactions with transcriptional regulators rather than direct DNA binding. It is broadly expressed, with significant presence in the brain. Clinically, loss-of-function variants in TCEAL1 cause Hijazi-Reis syndrome, an X-linked dominant neurodevelopmental disorder. This syndrome is characterized by developmental delay, intellectual disability, autistic features, and hypotonia, with clinical severity often influenced by X-inactivation patterns in females.
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技术参数
- 靶点基因名
- TCEAL1
- 基因别名
- SIIR
- 蛋白别名
- transcription elongation factor A like 1; TCEAL1
- UniProt
- Q15170
- 物种
- Human
产品详情
- 靶点名称
- TCEAL1
- 蛋白名称
- transcription elongation factor A like 1
- 蛋白别名
- Transcription elongation factor A protein-like 1; TCEA-like protein 1; Nuclear phosphoprotein p21/SIIR; Transcription elongation factor S-II protein-like 1
- 靶点基因名
- TCEAL1
- 基因别名
- SIIR
- UniProt
- Q15170
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Transcription elongation factor A like 1 (TCEAL1) is a nuclear phosphoprotein belonging to the transcription elongation factor A (SII)-like family. Encoded by an X-linked gene, the protein contains an arginine/serine-rich region, a zinc finger-like motif, and a C-terminal helix-turn-helix-like region. TCEAL1 modulates the transcription of various cellular and viral promoters through protein-protein interactions with transcriptional regulators rather than direct DNA binding. It is broadly expressed, with significant presence in the brain. Clinically, loss-of-function variants in TCEAL1 cause Hijazi-Reis syndrome, an X-linked dominant neurodevelopmental disorder. This syndrome is characterized by developmental delay, intellectual disability, autistic features, and hypotonia, with clinical severity often influenced by X-inactivation patterns in females.