PTF1A

pancreas specific transcription factor, 1a

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Pancreatic agenesis 2
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis

From UniProt:

Pancreatic and cerebellar agenesis (PACA): A disease characterized by neonatal diabetes mellitus, cerebellar agenesis or hypoplasia, severe intrauterine growth retardation, the presence of very little subcutaneous fat, and dysmorphic facial features. [MIM:609069]

Pancreatic agenesis 2 (PAGEN2): A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin-dependent diabetes mellitus, and exocrine pancreatic insufficiency. [MIM:615935]

Cytogenetic Location: 10p12.2, which is the short (p) arm of chromosome 10 at position 12.2

Molecular Location: base pairs 23,192,531 to 23,194,252 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10p12.2, which is the short (p) arm of chromosome 10 at position 12.2
  • bHLHa29
  • PACA
  • PAGEN2
  • PTF1-p48