Gene: PDX1

Alternate names for this Gene: GSF|IDX-1|IPF1|IUF1|MODY4|PAGEN1|PDX-1|STF-1

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 (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4).

Gene is located in Chromosome: 13

Location in Chromosome : 13q12.2

Description of this Gene: pancreatic and duodenal homeobox 1

Type of Gene: protein-coding

rs387906777 in PDX1 gene and DIABETES MELLITUS, PERMANENT NEONATAL PMID 20009086 2010 A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.

PMID 12970316 2003 Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.

rs7981781 in PDX1 gene and Fasting blood glucose measurement PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

rs9581943 in PDX1 gene and Pancreatic carcinoma PMID 26098869 2015 Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer.

PMID 29422604 2018 Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer.

PMID 25086665 2014 Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.