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RNA tissue category: Group enriched (colon, gallbladder, pancreas, small intestine)
GENE INFORMATION
Gene name
PDX1 (HGNC Symbol)
Synonyms
IDX-1, IPF1, MODY4, PDX-1, STF-1
Description
Pancreatic and duodenal homeobox 1 (HGNC Symbol)
Entrez gene 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 (NIDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Jul 2008]