人 FOXL2 抗体对
01AB02605
Forkhead box L2 (FOXL2) is a forkhead family transcription factor that plays a central role in female sex determination and ovarian development. It is expressed in the eyelids, pituitary, and ovarian granulosa cells, where it regulates genes involved in steroidogenesis, such as CYP19, and represses testis-determining programs by inhibiting SOX9. FOXL2 is essential for maintaining granulosa cell identity and regulating proliferation and apoptosis. Clinically, germline mutations in FOXL2 cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), which is frequently associated with primary ovarian insufficiency. Additionally, the somatic C134W mutation in FOXL2 is a pathognomonic marker for adult granulosa cell tumors, where it disrupts normal cell cycle control to promote tumorigenesis.
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技术参数
- 靶点基因名
- FOXL2
- 蛋白别名
- forkhead box L2; FOXL2
- UniProt
- P58012
- 物种
- Human
产品详情
- 靶点名称
- FOXL2
- 蛋白名称
- forkhead box L2
- 蛋白别名
- Forkhead box protein L2
- 靶点基因名
- FOXL2
- UniProt
- P58012
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Forkhead box L2 (FOXL2) is a forkhead family transcription factor that plays a central role in female sex determination and ovarian development. It is expressed in the eyelids, pituitary, and ovarian granulosa cells, where it regulates genes involved in steroidogenesis, such as CYP19, and represses testis-determining programs by inhibiting SOX9. FOXL2 is essential for maintaining granulosa cell identity and regulating proliferation and apoptosis. Clinically, germline mutations in FOXL2 cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), which is frequently associated with primary ovarian insufficiency. Additionally, the somatic C134W mutation in FOXL2 is a pathognomonic marker for adult granulosa cell tumors, where it disrupts normal cell cycle control to promote tumorigenesis.