Gene: PAX4
Alternate names for this Gene: KPD|MODY9
Gene Summary: This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells.
Gene is located in Chromosome: 7
Location in Chromosome : 7q32.1
Description of this Gene: paired box 4
Type of Gene: protein-coding
rs2233578 in
PAX4 gene and
Diabetes Mellitus, Ketosis-Prone
PMID 15509590 2004 Clinical investigation of the homozygous Arg133Trp carriers and of the Arg37Trp carrier demonstrated a more severe alteration in insulin secretory reserve, during a glucagon-stimulation test, compared to other KPD subjects.
rs114202595 in
PAX4 gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 22962670 2012 Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.
PMID 23492873 2013 Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes?
PMID 29632382 2018 Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.