PAX8 : paired box 8
Description
The PAX8 (paired box 8) is a protein-coding gene located on chromosome 2.
The PAX8 gene is a member of the PAX gene family, which plays crucial roles in embryonic development and the maintenance of cell function after birth. PAX genes encode proteins that bind to specific DNA regions, controlling gene activity (gene expression). These proteins are known as transcription factors. During embryonic development, PAX8 protein is believed to activate genes involved in the formation of the kidney and the thyroid gland, a gland in the lower neck that releases hormones regulating growth, brain development, and metabolism. After birth, PAX8 protein continues to regulate genes responsible for the production of thyroid hormones.
PAX8 is also known as PAX-8.
Associated Diseases
- Hypothyroidism, congenital, nongoitrous, 2
- Athyreosis
- Thyroid ectopia
- Thyroid hypoplasia
- Congenital hypothyroidism
