SOX17
SOX17 is a gene that encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a key role in heart development and embryogenesis.
Function
SOX17 is a transcription factor that is involved in the regulation of embryonic development and in the determination of the cell fate. It is known to play a crucial role in the development of the heart and embryogenesis. The protein encoded by this gene is thought to act as a transcriptional regulator, forming a protein complex with other proteins to control the transcription of specific genes.
Clinical significance
Mutations in the SOX17 gene have been associated with several medical conditions. For instance, they have been linked to Vesicoureteral reflux, a condition where urine flows backward from the bladder into the kidneys. Mutations in this gene are also associated with endometrial cancer, a type of cancer that begins in the lining of the uterus.
Research
Research into the SOX17 gene is ongoing, with scientists studying its role in various biological processes and diseases. For example, it is being investigated for its potential role in the development of cancer stem cells, which are thought to be responsible for the initiation and progression of cancer.
See also
- SOX genes
- Transcription factor
- Embryonic development
- Heart development
- Vesicoureteral reflux
- Endometrial cancer
- Cancer stem cells
References
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Contributors: Prab R. Tumpati, MD