DISEASES

Disease-gene associations mined from literature

Literature on PTF1A

PTF1A [ENSP00000365687]

P48 DNA-binding subunit of transcription factor PTF1; Transcription factor implicated in the cell fate determination in various organs. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays a role in early and late pancreas development and differentiation. Important for determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and amylase. Required for the formation of pancreatic acinar and ductal cells. Plays an important role in cerebellar development. Directly regulated by FOXN4 and RORC during retinal development, FOXN4-PTF1A pathway plays a central role in directing the differentiation of retinal progenitors towards horizontal and amacrine fates; Basic helix-loop-helix proteins

Synonyms:  PTF1A,  PTF1Ap,  hPTF1A,  Q7RTS3,  BHLHA29 ...

Linkouts:  STRING  Pharos  UniProt  OMIM