PAX2

PAX2 is a gene that belongs to the paired box (PAX) family of transcription factors. This gene plays a critical role in the development of the eyes, ears, and kidneys. Mutations in PAX2 have been associated with various diseases, including renal-coloboma syndrome and isolated renal hypoplasia.

Function

PAX2 is a transcription factor, meaning it helps control the activity of certain genes. It is involved in the development of several organs during embryonic development, including the kidney, eye, ear, and central nervous system. In the kidney, PAX2 helps regulate the formation of the urinary tract. In the eye, it is involved in the development of the optic nerve and retina. In the ear, PAX2 plays a role in the formation of the inner ear structures that help with balance and hearing.

Clinical significance

Mutations in the PAX2 gene can lead to several diseases. One of these is renal-coloboma syndrome, a condition characterized by kidney abnormalities and eye defects. Another condition associated with PAX2 mutations is isolated renal hypoplasia, a condition in which the kidneys are underdeveloped.

Genetics

The PAX2 gene is located on the short (p) arm of chromosome 10 at position 13. The gene spans about 22 kilobases and consists of 12 exons, which are portions of the gene that are used to make the final protein product.

See also

• PAX genes
• Transcription factor
• Renal-coloboma syndrome
• Isolated renal hypoplasia