Treacle Ribosome Biogenesis Factor 1 (TCOF1) also known as Treacle is a protein that in humans is encoded by the TCOF1 gene. [5] [6] TCOF1 encodes a nucleolar protein with an LIS1 homology domain. [7] The treacle protein is involved in rRNA gene transcription through its interaction with upstream binding factor (UBF).

Treacher Collins syndrome (TCS) is an autosomal dominant disorder characterized by an abnormality of craniofacial development that arises during early embryogenesis. TCS is caused by mutations in the gene TCOF1, which encodes the nucleolar phosphoprotein treacle.

2024年12月25日 · TCOF1 (Treacle Ribosome Biogenesis Factor 1) is a Protein Coding gene. Diseases associated with TCOF1 include Treacher Collins Syndrome 1 and Crouzon Syndrome. Gene Ontology (GO) annotations related to this gene include RNA binding and …

The TCOF1 gene provides instructions for making a protein called treacle. This protein is active during early embryonic development in structures that become bones and other tissues of the face, and it appears to play a critical role in the formation of these structures.

Data indicate that Treacher Collins-Franceschetti syndrome 1 protein (TCOF1) was the main disease-causing gene for the Chinese Treacher Collins syndrome (TCS) population and its mutation spectrum.

2021年3月1日 · Among all nucleolar proteins, treacle encoded by TCOF1 gene emerges as one of the most crucial regulators of cellular processes. TCOF1 was initially discovered as a gene involved in the Treacher Collins syndrome, a rare genetic disorder characterized by severe craniofacial deformations.

HGNC Approved Gene Symbol: TCOF1. By positional cloning, the Treacher Collins Syndrome Collaborative Group (1996) identified a novel gene of unknown function, which they designated treacle, within the Treacher Collins syndrome (TCS; 154500) critical region at chromosome 5q.

Tcof1 regulates ribosome biogenesis for neural crest cell survival. Treacle co-localizes with upstream binding factor (UBF) and RNA polymerase I in the nucleolus where ribosomal RNA transcription takes place (Valdez et al., 2004).

2020年10月20日 · Here, we report that TCOF1 leaves the nucleolus and is recruited to telomeres specifically during S phase by interacting with TRF2. Therein, TCOF1 acts to suppress telomere transcription by...

2024年1月7日 · TCOF1 coordinates oncogenic activation and rRNA production and promotes tumorigenesis in HCC. TCOF1 upregulation in triple-negative breast cancer promotes stemness and tumour growth and correlates with poor prognosis. De novo TCOF1 mutation in Treacher Collins syndrome.

The TCOF1 gene product, treacle, responsible for the craniofacial disorder Treacher Collins syndrome, has been predicted to be a member of a class of nucleolar phosphoproteins based on its primary amino acid sequence.

TCOF1 is a prognostic marker in Liver hepatocellular carcinoma, Lung adenocarcinoma

About 200 mutations in the TCOF1 gene have been identified in people with Treacher Collins syndrome, a condition that affects the development of bones and other tissues of the face.

Treacle ribosome biogenesis factor 1 (TCOF1) is a nucleolar factor that regulates ribosomal DNA (rDNA) transcription in the nucleolus. TCOF1 has been previously reported to be implicated in Treacher Collins–Franceschetti syndrome (TCS), a congenital disorder of …

2021年3月1日 · Among all nucleolar proteins, treacle encoded by TCOF1 gene emerges as one of the most crucial regulators of cellular processes. TCOF1 was initially discovered as a gene involved in the Treacher Collins syndrome, a rare genetic disorder characterized by severe craniofacial deformations.

2025年2月7日 · Our findings establish TCOF1 as the primary pathogenic gene in this Chinese TCS cohort, with mutations predominantly in the CRD and CTD, thereby expanding the known mutation spectrum of TCS and informing its prevention strategies.

Tcof1 regulates ribosome biogenesis for neural crest cell survival. Treacle co-localizes with upstream binding factor (UBF) and RNA polymerase I in the nucleolus where ribosomal RNA transcription takes place (Valdez et al., 2004).

2004年7月20日 · Treacher Collins syndrome (TCS) is an autosomal dominant disorder characterized by an abnormality of craniofacial development that arises during early embryogenesis. TCS is caused by mutations in the gene TCOF1, which encodes the nucleolar phosphoprotein treacle.

2022年1月30日 · Treacle ribosome biogenesis factor 1 (TCOF1) plays a crucial role in multiple processes, including ribosome biogenesis, DNA damage response (DDR), mitotic regulation, and telomere integrity. However, its role in cancers remains unclear.

2021年3月1日 · TCOF1 was initially discovered as a gene involved in the Treacher Collins syndrome, a rare genetic disorder characterized by severe craniofacial deformations. Later studies revealed that...