2024年12月25日 · POU3F4 (POU Class 3 Homeobox 4) is a Protein Coding gene. Diseases associated with POU3F4 include Deafness, X-Linked 2 and Xq21 Microdeletion Syndrome . Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and double-stranded DNA binding .

POU domain, class 3, transcription factor 4 is a protein that in humans is encoded by the POU3F4 gene found on the X chromosome. [5] [6] [7] POU3F4 is involved in the patterning of the neural tube and both the paraventricular and supraoptic nuclei of …

The POU3F4 gene provides instructions for making a protein that helps regulate the activity of other genes. Based on this role, the protein is called a transcription factor. The POU3F4 gene is part of a larger family of transcription factor genes called POU domain genes. These genes play a role in determining cell types in the brain and spinal ...

POU3F4 mutations are associated with X-linked deafness; We concluded that the probable presence of the third window effect is not limited to the particular type of POU3F4 mutation. Results show three novel mutations in the POU3F4 gene resulting in profound hearing loss in both humans and mice.

2013年3月27日 · The POU3F4 gene encodes a transcription factor that restricts the proliferation and lineage potential of neural stem cells (summary by Choi et al., 2013).

2025年1月15日 · Research has demonstrated that POU3F4 is integral to various cancers, in addition to its significance in inner ear development, pancreatic differentiation, as well as neural stem cell differentiation. Nevertheless, comprehensive pan …

2024年6月17日 · Clinical resource with information about POU3F4, A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus., Hereditary hearing loss and deafness, X-linked mixed …

2025年3月5日 · POU3F4 mutations are associated with approximately 50% of X-linked non-syndrome hearing loss cases. POU3F4 plays a critical role in cochlear development by regulating otic mesenchyme cell differentiation. The study investigates the impact of a novel POU3F4 p.E294G mutation on cochlear structure and function using cellular and animal model.

2018年9月4日 · Based on characteristic radiological findings and clinical features, POU3F4 gene mutation analysis will increase the success rate of stapes operations and cochlear implantations, and improve molecular diagnosis, genetic counseling, and knowledge of the molecular epidemiology of HL among patients wit …

该基因编码 POU-III 类神经转录因子的成员。 这个家族成员在内耳发育中发挥作用。 该蛋白质被认为参与诱导纹状体神经元前体分化的表观遗传信号的介导。 该基因的突变与 X 染色体相关的非综合征性混合性耳聋有关。 [RefSeq 提供，2012 年 12 月] This gene encodes a member of the POU-III class of neural transcription factors. This family …