Paired

Paired box (PAX) is a family of genes that are involved in regulating cellular differentiation and development in a variety of organisms. The PAX genes encode transcription factors that recognize specific DNA sequences and control the expression of other genes.

Structure

The PAX proteins have a highly conserved paired domain that binds to DNA. This domain is composed of two subdomains, the PAI and RED subdomains, which are connected by a flexible linker. The paired domain is responsible for the specific DNA binding activity of the PAX proteins.

Function

PAX genes play crucial roles in organogenesis, the process of organ formation during embryonic development. They are involved in the formation of tissues and organs such as the eye, nervous system, kidney, and pancreas. Mutations in PAX genes can lead to a variety of congenital disorders.

Clinical significance

Mutations in PAX genes have been associated with several human diseases, including aniridia, coloboma, Waardenburg syndrome, and cancer. In cancer, PAX genes can act as oncogenes or tumor suppressors, depending on the context.

See also

• PAX2
• PAX3
• PAX6
• PAX8

References

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