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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
BPTF - Bromodomain PHD Finger Transcription Factor
Alias:
FAC1
FALZ
NEDDFL
NURF301
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是通过其编码蛋白质与针对阿尔茨海默病患者脑组织匀浆制备的单克隆抗体的反应性而被鉴定的。最初被鉴定为一种含有DNA结合结构域和锌指基序的810个氨基酸的蛋白质,可能参与转录调节。在胎儿大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原来认为的要大得多,并且它还含有C端溴域,这是调节增殖期间转录的蛋白质的特征。这个基因编码的蛋白质与果蝇NURF(核小体重建因子)复合物的最大亚基高度相似。在果蝇中,NURF复合物催化DNA上的核小体滑动,并与序列特异性的转录因子相互作用,这是转录所需的染色质重塑所必需的。已经描述了编码不同异构体的两种可选的转录本。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2186
ENSEMBL:ENSG00000171634
HGNC:3581
UNIPROT:Q12830
OMIM:601819
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
2186
50
28
158876 bp
338.26
553
4
8
33
BPTF Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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