XB-FEAT-484424: Difference between revisions
imported>Xenbase |
imported>Xenbase |
||
| Line 8: | Line 8: | ||
pt1a promotes GABAergic neural cell fate and drives neuronal differentiation. | pt1a promotes GABAergic neural cell fate and drives neuronal differentiation. | ||
LOF phenotypes in mice and human | 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] | |||
Revision as of 02:10, 30 June 2017
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
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]