The MNX1 gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. This protein is implicated in the control of gene expression in both developing and adult tissues, and is required for the development of multiple tissues, including the anterior horn regions in the spinal cord, the sacra region, as well as the pancreas. Recent studies have identified MNX1 as an important factor in beta-cell differentiation and proliferation.
Mutations in the MNX1 gene result in Currarino syndrome. Nearly all familial and 30% sporadic cases of Currarino Syndrome carry mutations in the MNX1 gene. Homozygous MNX1 mutations have been shown to cause permanent neonatal diabetes in humans.