Aliases for PTF1A Gene
External Ids for PTF1A Gene
Previous GeneCards Identifiers for PTF1A Gene
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]
GeneCards Summary for PTF1A Gene
PTF1A (Pancreas Specific Transcription Factor, 1a) is a Protein Coding gene. Diseases associated with PTF1A include permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis and pancreatic and cerebellar agenesis. Among its related pathways are Developmental Biology and Regulation of beta-cell development. GO annotations related to this gene include sequence-specific DNA binding and protein dimerization activity. An important paralog of this gene is FERD3L.
UniProtKB/Swiss-Prot for PTF1A Gene
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.