AUTHOR=Wu Weiyin , Kong Xiangjun , Jia Yanhan , Jia Yihui , Ou Weimei , Dai Cuilian , Li Gang , Gao Rui TITLE=An overview of PAX1: Expression, function and regulation in development and diseases JOURNAL=Frontiers in Cell and Developmental Biology VOLUME=10 YEAR=2022 URL=https://www.frontiersin.org/journals/cell-and-developmental-biology/articles/10.3389/fcell.2022.1051102 DOI=10.3389/fcell.2022.1051102 ISSN=2296-634X ABSTRACT=

Transcription factors play multifaceted roles in embryonic development and diseases. PAX1, a paired-box transcription factor, has been elucidated to play key roles in multiple tissues during embryonic development by extensive studies. Recently, an emerging role of PAX1 in cancers was clarified. Herein, we summarize the expression and functions of PAX1 in skeletal system and thymus development, as well as cancer biology and outline its cellular and molecular modes of action and the association of PAX1 mutation or dysregulation with human diseases, thus providing insights for the molecular basis of congenital diseases and cancers.