XB-FEAT-484424

ptf1a

This is the community wiki page for the gene ptf1a please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

03.12.18 Human name has changed for Entrez Gene: 256297. From pancreas specific transcription factor, 1a to pancreas associated transcription factor 1a

gene expression notes

ptf1a is expressed the developing hindbrain and the dorsal spinal cord, retina and pancreas.( it is mostly studied in pancreas development).

pt1a promotes GABAergic neural cell fate and drives neuronal differentiation.

LOF phenotypes in mice and human involve cerebellum loss/deficencies.

summary from NCBI

This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]