2021年5月6日 · EBF3 neurodevelopmental disorder (EBF3-NDD) is associated with developmental delay, intellectual disability, speech delay, gait or truncal ataxia, hypotonia, behavioral problems, and facial dysmorphism. Less common issues can include genitourinary abnormalities, gastrointestinal involvement, and/or musculoskeletal involvement.

2024年12月24日 · EBF3 (EBF Transcription Factor 3) is a Protein Coding gene. Diseases associated with EBF3 include Hypotonia, Ataxia, And Delayed Development Syndrome and Vesicoureteral Reflux . Among its related pathways is Differentiation of white and brown adipocyte .

2024年6月1日 · Early B Cell Factor 3 (EBF3), a member of the highly evolutionarily conserved EBF-transcription factor family, is involved in neuronal development. EBF3 expression is low in the substantia nigra of patients with PD. However, whether EBF3 is implicated in dopaminergic neuron death during PD has not yet been investigated.

Clinical characteristics: EBF3 neurodevelopmental disorder (EBF3 -NDD) is associated with developmental delay (DD) / intellectual disability (ID), speech delay, gait or truncal ataxia, hypotonia, behavioral problems, and facial dysmorphism. Variability between individuals with EBF3 -NDD is significant.

2020年1月22日 · Title: Early B Cell Factor 3 (EBF3) attenuates Parkinson's disease through directly regulating contactin-associated protein-like 4 (CNTNAP4) transcription: An experimental study. An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.

该基因编码早期 B 细胞因子 (EBF) DNA 结合转录因子家族的成员。 EBF 蛋白参与 B 细胞分化、骨骼发育和神经发生，并且还可能起到肿瘤抑制因子的作用。 编码的蛋白质通过调节参与细胞周期停滞和细胞凋亡的基因来抑制细胞存活，并且该基因的异常甲基化或缺失可能在多种恶性肿瘤中起作用，包括多形性胶质母细胞瘤和胃癌。 [RefSeq 提供，2011 年 9 月] This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors.

2025年2月8日 · EBF3, a transcription factor previously unknown to be associated with human disease, is important for brain and other organ development and warrants further investigation; Early B-cell factor 3 (EBF3) is a novel tumor suppressor gene with promoter hypermethylation in pediatric acute myeloid leukemia

Early B cell factor 3 (EBF3) is an atypical transcription factor that is thought to influence the laminar formation of the cerebral cortex. Here, we report that de novo mutations in EBF3 cause a complex neurodevelopmental syndrome.

2017年1月5日 · EBF3 belongs to the early B cell factor family (also known as Olf, COE, or O/E) and is a transcription factor involved in neuronal differentiation and maturation. Structural assessment predicted that the five amino acid substitutions have damaging effects on DNA binding of EBF3.

What is EBF3-related syndrome? EBF3-related syndrome happens when there are changes to the EBF3 gene. These changes can keep the gene from working as it should. The EBF3 gene plays a key role in the growth of brain cells. What causes EBF3-related syndrome?