人 FRYL 抗体对
01AB02716
FRY like transcription coactivator (FRYL) is a large human protein that serves as a transcriptional coactivator, linking cytoskeletal organization with gene regulation. As a paralog of the FRY microtubule-binding protein, it exhibits protein-binding activity and is critical for polarized growth and neural development. FRYL is thought to act as a bridge between the cytoskeleton and the nucleus, facilitating the coordination of cellular architecture with gene expression programs. Clinically, biallelic variants in the FRYL gene are the established cause of Pan-Chung-Bellen syndrome, a neurodevelopmental disorder characterized by intellectual disability, developmental delay, hypotonia, and structural brain anomalies. Its role in maintaining cellular polarity and structural integrity makes it a key factor in proper vertebrate development.
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技术参数
- 靶点基因名
- FRYL
- 基因别名
- AF4P12; KIAA0826
- 蛋白别名
- FRY like transcription coactivator; FRYL
- UniProt
- O94915
- 物种
- Human
产品详情
- 靶点名称
- FRYL
- 蛋白名称
- FRY like transcription coactivator
- 蛋白别名
- Protein furry homolog-like; ALL1-fused gene from chromosome 4p12 protein
- 靶点基因名
- FRYL
- 基因别名
- AF4P12; KIAA0826
- UniProt
- O94915
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
FRY like transcription coactivator (FRYL) is a large human protein that serves as a transcriptional coactivator, linking cytoskeletal organization with gene regulation. As a paralog of the FRY microtubule-binding protein, it exhibits protein-binding activity and is critical for polarized growth and neural development. FRYL is thought to act as a bridge between the cytoskeleton and the nucleus, facilitating the coordination of cellular architecture with gene expression programs. Clinically, biallelic variants in the FRYL gene are the established cause of Pan-Chung-Bellen syndrome, a neurodevelopmental disorder characterized by intellectual disability, developmental delay, hypotonia, and structural brain anomalies. Its role in maintaining cellular polarity and structural integrity makes it a key factor in proper vertebrate development.