Treacle ribosome biogenesis factor 1 (TCOF1)

Treacle ribosome biogenesis factor 1 (TCOF1) encodes **treacle**, a nucleolar phosphoprotein crucial for ribosomal RNA (rRNA) gene transcription and ribosome biogenesis[1][2][3][4][5]. The protein is essential for normal embryonic development of facial bones and tissues, acting primarily by regulating cellular rRNA production and thereby protein biosynthesis, cell proliferation, and apoptosis[1][2][4][5]. Treacle is also implicated in DNA damage response, cooperating with factors such as NBS1 and ATM to promote cellular resistance to genotoxic stress and maintain genomic stability[6][2]. Mutations in **TCOF1** cause Treacher Collins syndrome, a congenital disorder with variable craniofacial malformations, and are increasingly recognized as relevant in other pathologies, including cancer[2][6]. There are no drugs that directly target TCOF1, and it is not currently considered an established therapeutic target. Nevertheless, because of its central roles in ribosome biogenesis and genome stability, TCOF1 is of interest in developmental biology, cancer research, and genetic diagnostics[2][5][6].

Other names

Treacle proteintreacleTCSTreacher Collins syndrome proteinMFD1TCS1Treacher Collins-Franceschetti syndrome 1nucleolar trafficking phosphoproteinTCOF_HUMAN