PTF1A, Official Symbol PTF1Aprovided by HGNC Official Full Name pancreas associated transcription factor 1aprovided by HGNC Primary source HGNC:HGNC:23734 See related Ensembl:ENSG00000168267 MIM:607194; AllianceGenome:HGNC:23734 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p48; PACA; PAGEN2; bHLHa29; PTF1-p48 Summary 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] Expression Biased expression in pancreas (RPKM 4.5), testis (RPKM 0.5) and 1 other tissue See more Orthologs mouse all