人 PAX4 抗体对
01AB00334
Paired box 4 (PAX4) is a transcription factor crucial for pancreatic islet development, particularly in the differentiation of insulin-producing beta cells. It contains a paired box domain and a homeodomain for DNA binding, functioning primarily as a transcriptional repressor. PAX4 is expressed early in pancreatic development and suppresses alpha-cell differentiation while promoting beta-cell formation. Its repressor activity is mediated through multiple domains, with the homeodomain and carboxyl terminus exhibiting the strongest repression. PAX4 mutations are associated with various forms of diabetes, including maturity-onset diabetes of the young (MODY), type 1 diabetes, and type 2 diabetes. Specifically, mutations like R121W and R192H impair DNA binding and transcriptional activity, leading to increased susceptibility to diabetes development. These mutations can affect beta-cell function and survival, highlighting PAX4's importance in maintaining glucose homeostasis.
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技术参数
- 靶点基因名
- PAX4
- 蛋白别名
- paired box 4; PAX4
- UniProt
- O43316
- 物种
- Human
产品详情
- 靶点名称
- PAX4
- 蛋白名称
- paired box 4
- 蛋白别名
- Paired box protein Pax-4
- 靶点基因名
- PAX4
- UniProt
- O43316
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Paired box 4 (PAX4) is a transcription factor crucial for pancreatic islet development, particularly in the differentiation of insulin-producing beta cells. It contains a paired box domain and a homeodomain for DNA binding, functioning primarily as a transcriptional repressor. PAX4 is expressed early in pancreatic development and suppresses alpha-cell differentiation while promoting beta-cell formation. Its repressor activity is mediated through multiple domains, with the homeodomain and carboxyl terminus exhibiting the strongest repression. PAX4 mutations are associated with various forms of diabetes, including maturity-onset diabetes of the young (MODY), type 1 diabetes, and type 2 diabetes. Specifically, mutations like R121W and R192H impair DNA binding and transcriptional activity, leading to increased susceptibility to diabetes development. These mutations can affect beta-cell function and survival, highlighting PAX4's importance in maintaining glucose homeostasis.