BPTF

该基因通过其编码蛋白与针对阿尔茨海默病患者脑匀浆制备的单克隆抗体的反应性进行鉴定。对原蛋白(胎儿alz-50活性克隆1,fac1)的分析表明,该蛋白可能参与转录调控,是一种含有dna结合区和锌指基序的810a a蛋白。胎儿脑和神经退行性疾病患者中检测到高水平的FAC1这个基因编码的蛋白质实际上比最初想象的要大得多,而且它还含有一种蛋白质的C-末端溴代胺,在增殖过程中调节转录。编码蛋白与果蝇nurf(核小体重塑因子)复合物的最大亚单位高度相似。在果蝇中,nurf复合物催化核小体在dna上滑动,并与序列特异性转录因子相互作用,是转录所需的染色质重塑所必需的。两个编码不同亚型的替代转录本已经被完全描述。[由RefSeq提供,2008年7月]
This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]

别名

FAC1,FALZ,NEDDFL,NURF301

基因id

Chromosome:17 Start: 65821644 End: 65980494 Strand: 

药物

突变与药物

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