PAX4
Pax4 Gene: A Key Player in Embryonic Development and Disease
Description
The paired box 4 (pax4) gene is a master regulator of gene expression, essential for proper embryonic development. It belongs to the pax family of transcription factors, which share a conserved DNA-binding domain called the paired box.
Pax4 plays a crucial role in the development of the central nervous system, eye, pancreas, and male reproductive system. It regulates the expression of numerous genes involved in cell proliferation, differentiation, and migration.
Associated Diseases
Mutations in the pax4 gene have been linked to several human diseases, including:
Congenital Hypothyroidism: Mutations in pax4 can disrupt the development of the thyroid gland, leading to congenital hypothyroidism, a condition in which the thyroid gland does not produce enough thyroid hormone.
Anophthalmia and Microphthalmia: Pax4 mutations can cause anophthalmia (complete absence of eyes) or microphthalmia (underdeveloped eyes).
Renal Coloboma Syndrome: This rare condition involves kidney and eye abnormalities, including renal coloboma (a defect in the kidney‘s structure) and microphthalmia.
Pancreatic Agenesis: Pax4 mutations can result in the absence of the pancreas, a vital organ responsible for producing digestive enzymes and insulin.
MODY _Mature Onset diabetes Militus
Did you Know ?
Approximately 1 in every 200,000 newborns is affected by congenital hypothyroidism caused by pax4 mutations.
