Pancreas Specific Transcription Factor 1a (PTF1a)

PTF1-A; PTF1-p48; Class A basic helix-loop-helix protein 29; bHLH transcription factor p48; p48 DNA-binding subunit of transcription factor PTF1

SPN	U119
HGNC	23734
MGI	1328312
PubMed	17075007
RGD	621709
UniProt	Q7RTS3
Wiki	PTF1A

Pancreas transcription factor 1 subunit alpha 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.Pancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers.

Reference

"The DNA sequence and comparative analysis of human chromosome 10."
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]

"Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells."
Cell Growth Differ. 11:137-147(2000) [PubMed] [Europe PMC] [Abstract]

"Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening."
Gene Expr. Patterns 2:329-335(2002) [PubMed] [Europe PMC] [Abstract]

"Mutations in PTF1A cause pancreatic and cerebellar agenesis."
Nat. Genet. 36:1301-1305(2004) [PubMed] [Europe PMC] [Abstract]

"Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis."
Nat. Genet. 46:61-64(2014) [PubMed] [Europe PMC] [Abstract]