2024年12月25日 · UBTF (Upstream Binding Transcription Factor) is a Protein Coding gene. Diseases associated with UBTF include Neurodegeneration, Childhood-Onset, With Brain Atrophy and Rare Syndromic Intellectual Disability. Among its related pathways are RNA Polymerase I Promoter Opening and RNA Polymerase I Transcription Termination.

The goal of Cure UBTF is to increase understanding of the mutation and fund UBTF research which could be used to create treatments and therapies that would improve the lives of those living with UBTF.

2024年2月15日 · UBTF, a nucleolar protein, plays an important role in ribosomal RNA (rRNA) synthesis, nucleolar integrity, and cell survival. This variant causes unstable preinitiation complexes to form, resulting in altered rDNA chromatin structures, rRNA dysregulation, DNA damage, and ultimately, neurodegeneration.

2023年5月26日 · Tandem-duplication mutations of the UBTF gene (UBTF-TDs) coding for the upstream binding transcription factor have recently been described in pediatric patients with acute myeloid leukemia...

UBTF tandem duplications define a distinct subtype of adult de novo acute myeloid leukemia. UBTF tandem duplications are rare but recurrent alterations in adult AML and associated with younger age, myelodysplasia, and inferior outcome.

2023年4月21日 · UBTF is a key component of the pre-initiation complex mediating the recruitment of RNA polymerase I to ribosomal DNA promoter regions but is also enriched at polymerase II-transcribed genes...

Upstream binding transcription factor (UBTF, also called UBF) is thought to function exclusively in RNA polymerase I (Pol I)-specific transcription of the ribosomal genes. Here, we report that the two isoforms of UBTF (UBTF1/2) are also enriched at highly expressed Pol II-transcribed genes throughout the mouse genome.

UBTF (upstream binding transcription factor) is a multi-faceted protein that contains a dimerization domain, six High Mobility Group B (HMGB) Boxes, which are involved in DNA binding, and a transcriptional activation domain.

2024年12月10日 · Clinical resource with information about UBTF, Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2024年12月9日 · Upstream binding factor (UBF) is a transcription factor required for expression of the 18S, 5.8S, and 28S ribosomal RNAs, along with SL1 (a complex of TBP (600075) and multiple TBP-associated factors or 'TAFs'). Two UBF polypeptides, of 94 and 97 kD, exist in the human (Bell et al., 1988).