PAX2 : paired box 2
Description
The PAX2 (paired box 2) is a protein-coding gene located on chromosome 10.
The PAX2 gene is part of a family of genes crucial for tissue and organ formation during embryonic development. PAX genes also play a role in maintaining cell function after birth. They make proteins that bind to specific DNA regions, controlling the activity of particular genes, making them transcription factors. PAX2 specifically produces a protein involved in forming the eyes, ears, brain and spinal cord, kidneys, urinary tract, and genital tract during embryonic development. After birth, PAX2 protein is believed to protect against cell death during periods of cellular stress.
PAX2 is a transcription factor that plays a role in kidney cell differentiation. It is also essential for the development of the urogenital tract, eyes, and central nervous system (CNS).
PAX2 is also known as FSGS7, PAPRS, PAX-2.
Associated Diseases
- Renal hypoplasia, bilateral
- Renal coloboma syndrome
- Genetic steroid-resistant nephrotic syndrome
- Papillorenal syndrome
- Focal segmental glomerulosclerosis 7
- Coloboma
- Congenital anomalies of kidney and urinary tract
