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Are PAX genes transcription factors?

Paired-box (PAX) genes encode a family of highly conserved transcription factors found in vertebrates and invertebrates.

What is the PAX3 gene symptoms?

PAX3 gene variants have been identified in people with Waardenburg syndrome, a group of genetic conditions that can cause hearing loss and changes in coloring ( pigmentation) of the hair, skin, and eyes. Specifically, PAX3 gene variants can cause Waardenburg syndrome types I and III.

Where is PAX2 gene expressed?

Pax2 along with other transcription factors Pax5, Pax8, En1, and En 2 are expressed across the Otx2-Gbx2 boundary in the mid-hindbrain region.

What is the function of the PAX2 gene?

During embryonic development, the PAX2 gene provides instructions for producing a protein that is involved in the formation of the eyes, ears, brain and spinal cord (central nervous system), kidneys, urinary tract, and genital tract.

What is the PAX2 mutation in the kidneys?

Paired box 2 (PAX2)-related disorder is an autosomal dominant genetic disorder associated with kidney and eye abnormalities and can result in end stage renal disease (ESRD). Despite reported low prevalence of PAX2 mutations, the prevalence of PAX2 related disorders may have been underestimated in past studies.