PTF1A Antibody – Rabbit Polyclonal

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]

PTF1A: Transcriptional activator. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays an important role in 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. Defects in PTF1A are the cause of diabetes mellitus and cerebellar hypoplasia/agenesis (DMCH).

Chromosomal Location of Human Ortholog: 10p12.2

Cellular Component: transcription factor complex; cytoplasm; nucleus

Molecular Function: protein dimerization activity; DNA binding; sequence-specific DNA binding; chromatin binding

Biological Process: retinoic acid receptor signaling pathway; tissue development; embryonic development; regulation of transcription, DNA-dependent; transcription, DNA-dependent; pancreas development; neuron fate commitment; exocrine pancreas development; cerebellum development; positive regulation of transcription from RNA polymerase II promoter; endocrine pancreas development

Disease: Pancreatic And Cerebellar Agenesis; Pancreatic Agenesis 2