The gene PAX4 encodes a transcription factor that plays an important role in development of pancreatic islets and the regulation of insulin secretion. Mutations cause type 2 diabetes with susceptibility to ketone acidosis and autosomal dominant MODY9 diabetes.
Shimajiri Y et al. (2001) A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese.
Mauvais-Jarvis F et al. (2004) PAX4 gene variations predispose to ketosis-prone diabetes.
Plengvidhya N et al. (2007) PAX4 mutations in Thais with maturity onset diabetes of the young.
Update: Sept. 26, 2018