PROX1

PROX1 is a protein that in humans is encoded by the PROX1 gene. It is a transcription factor involved in the development and function of several organs and tissues, including the lymphatic system, liver, pancreas, and central nervous system.

Function

The PROX1 gene encodes a protein that functions as both a transcriptional activator and transcriptional repressor. The encoded protein specifically binds to an effector element in the promoter of the lens-specific ALDH1A1 gene and represses the promoter activity in immortalized lens epithelial cells. This protein also activates transcription of the hepatocyte nuclear factor 1 alpha gene and interacts with hepatocyte nuclear factor 6.

Clinical significance

Mutations in the PROX1 gene have been associated with various diseases, including lymphedema-distichiasis syndrome, a rare disorder characterized by swelling of the extremities and double rows of eyelashes. Additionally, PROX1 has been implicated in the progression of several types of cancer, including hepatocellular carcinoma, colorectal cancer, and breast cancer.

Research

Research into the PROX1 gene and its encoded protein is ongoing, with studies focusing on its role in organ development, disease progression, and potential therapeutic applications.

File:PROX1 protein structure.jpg

Structure of the PROX1 protein. Image from Wikimedia Commons.

See also

• Transcription factor
• Gene
• Protein
• Lymphedema-distichiasis syndrome

References

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