PTF1A

PTF1A is a tissue-restricted class II basic helix-loop-helix (bHLH) DNA-binding transcription activator. In the nucleus, PTF1A heterodimerizes with a class A E protein and associates with RBPJ or RBPJL to form the Notch-independent trimeric pancreas transcription factor 1 (PTF1) complex. The complex recognizes composite regulatory sites containing an E-box and an adjacent TC-box and activates RNA polymerase II-dependent transcription. RBPJ-containing PTF1-J acts in early lineage specification, whereas RBPJL replaces RBPJ during pancreatic acinar differentiation and maintenance. This conserved transcriptional mechanism controls context-specific cell-fate programs in the pancreas and nervous system: it supports pancreatic progenitor and exocrine-acinar programs, specifies inhibitory neuronal lineages including cerebellar ventricular-zone-derived Purkinje cells and interneurons, and directs retinal horizontal and amacrine fates. Biallelic loss-of-function variants in human PTF1A cause pancreatic and cerebellar agenesis.

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.