PAX4

PAX4 is a gene that belongs to the paired box (PAX) family of transcription factors. This gene is involved in the regulation of organ development and tissue differentiation. PAX4 plays a crucial role in the development of the pancreas and the differentiation of insulin-producing beta cells.

Function

PAX4 is a transcription factor that plays a key role in the development of the pancreas and the differentiation of insulin-producing beta cells. It is expressed in the early stages of pancreatic development and continues to be expressed in mature beta cells. Mutations in the PAX4 gene have been associated with diabetes mellitus type 2 and Maturity onset diabetes of the young (MODY).

Structure

The PAX4 gene is located on the long (q) arm of chromosome 7 at position 32. The gene spans approximately 8.3 kilobases and consists of 9 exons. The encoded protein is 350 amino acids in length.

Clinical significance

Mutations in the PAX4 gene have been associated with an increased risk of developing type 2 diabetes. In addition, rare mutations in this gene have been identified in individuals with MODY, a form of diabetes that typically develops in adolescence or early adulthood.

Research

Research on PAX4 has focused on its role in pancreatic development and its potential use in regenerative medicine. Studies have shown that overexpression of PAX4 can promote the differentiation of stem cells into insulin-producing beta cells, suggesting a potential therapeutic role for PAX4 in the treatment of diabetes.

See also

• PAX genes
• Diabetes mellitus type 2
• Maturity onset diabetes of the young
• Transcription factor
• Beta cell

References

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