PDX1 - Pancreas/duodenum homeobox protein 1 - human protein (Medical)
 
Home Recent activites arrow-down favorite My favorites arrow-down favorite My labels arrow-down Downloads
Back to ...  
Publication View
Protein
Gene
References

 
PDX1 »  Pancreas/duodenum homeobox protein 1  (PDX-1)
 
Protein also known as:  Somatostatin-transactivating factor 1 (STF-1).
Gene name:  PDX1
Family name: Antp homeobox » IPF1/XlHbox-8
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 106 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Pancreatic agenesis, congenital (PAGEN) [MIM:260370]: Autosomal recessive disorder is characterized by absence or hypoplasia of pancreas, leading to early-onset insulin-dependent diabetes mellitus. This was found in a frameshift mutation that produces a truncated protein and results in a second initiation that produces a second protein that act as a dominant negative mutant. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Maturity-onset diabetes of the young 4 (MODY4) [MIM:606392]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
MODY syndrome  552  
Partial pancreatic agenesis  2805  
Permanent neonatal diabetes mellitus  99885  
 

Keywords

Disease 
Diabetes mellitus  definition   [KW-0219]
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 3651
MIM: 260370
MIM: 606392
MIM: 125853
PharmGKB: PA162399173
Polymorphism databases
DMDM: 1708540
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.