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PTF1A

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]
Protein class

Disease related genes, Human disease related genes, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Group enriched (Exocrine glandular cells, Spermatocytes, Early spermatids)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enriched (U-2 OS)

Interaction

Component of the pancreas transcription factor 1 complex (PTF1) which is composed of TCF3/p75, TCF12/p64 and PTF1A/p48. TCF3 is responsible for the nuclear import of the p48/p64 complex. Interacts with TCF3 and RBPSUH/RBP-Jkappa (By similarity).

Molecular function

Developmental protein, DNA-binding

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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