Disease-gene associations mined from literature

Literature associating PDX1 and maturity-onset diabetes of the young type 5

PDX1 [ENSP00000370421]

Somatostatin-transactivating factor 1; Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During development, specifies the early pancreatic epithelium, permitting its proliferation, branching and subsequent differentiation. At adult stage, required for maintaining the hormone-producing phenotype of the beta-cell; HOXL subclass homeoboxes

Synonyms:  PDX1,  PDX1p,  hPDX1,  P52945,  IPF1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM