Pax9 gene

The PAX 9 gene (paired box 4) is located on chromosome 7q32.1 and encodes a transcription factor that plays a crucial role in the differentiation of pancreatic islet cells. Mutations in the PAX4 gene lead to MODY 9, with pathologically decreased insulin production. The inheritance is autosomal dominant.

Pax genes: There is a gene family with several, coding for a family of different transcription factors that have a common domain members (so-called paired box). This domain is responsible for binding to the DNA. Due to the presence of further characteristic domains, the pax genes are divided into 6 classes. Pax genes are involved in the segmentation (metamerism) of organisms and in neurogenesis. Pax-6 gene a so-called "master control gene" is essential for the eye development of humans (but also of worms and fruit flies). Further mutations in Pax genes lead to serious organ disorders, e.g. in the development of the kidneys.