Table 1.
Transcription factors linked to human pancreatic disorders
| Gene | Name | Pancreatic abnormalities |
|---|---|---|
| ARX | Aristaless-related homeobox | Hemizygous male: partial loss of endocrine and exocrine cells [185] |
| FOXP3 | Forkhead box P 3 | Hemizygous male: permanent diabetes [188] |
| GATA6 | Gata binding protein 6 | Heterozygous: neonatal diabetes, pancreatic agenesis [186]. Adult-onset diabetes [187] |
| GLIS3 | Glis family zinc finger 3 | Homozygous: neonatal diabetes [178] |
| HNF1Α | Hepatocyte nuclear factor 1α | Heterozygous: MODY3 [182] |
| HNF1B | Hepatocyte nuclear factor 1ß | Heterozygous: MODY5 [181] |
| HNF4Α | Hepatocyte nuclear factor 4α | Heterozygous: MODY1 [180] |
| MNX1 | Motor neuron and pancreas homeobox 1 | Homozygous: permanent neonatal diabetes [189] |
| NEUROD1 | Neurogenin differentiation factor 1 | Heterozygous: MODY6 [190]. Homozygous: neonatal diabetes [177] |
| NGN3 | Neurogenin 3 | Homozygous (hypomorphic mutation): diabetes [191, 192]. Biallelic mutations: permanent neonatal diabetes [179] |
| PAX4 | Paired box 4 | Heterozygous: MODY9 [193] |
| PDX1 | Pancreatic and duodenal homeobox 1 | Homozygous: congenital pancreatic agenesis [175]. Heterozygous: MODY4 [194] |
| PTF1A | Pancreatic-specific transcription factor 1A | Homozygous: pancreatic agenesis [176] |
| RFX6 | Regulatory factor X6 | Homozygous: neonatal diabetes and pancreatic hypoplasia [114] |
| SOX9 | Sex determine region Y (SRY)-box 9 | Heterozygous: pancreatic abnormalities [195] |