PDX1, Official Symbol PDX1provided by HGNC Official Full Name pancreatic and duodenal homeobox 1provided by HGNC Primary source HGNC:HGNC:6107 See related Ensembl:ENSG00000139515 MIM:600733; AllianceGenome:HGNC:6107 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GSF; IPF1; IUF1; IDX-1; MODY4; PDX-1; STF-1; PAGEN1 Summary The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017] Expression Biased expression in duodenum (RPKM 9.6), stomach (RPKM 1.5) and 3 other tissues See more Orthologs mouse all