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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
DFFA - DNA Fragmentation Factor Subunit Alpha
Alias:
DFF1
ICAD
DFF-45
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
细胞凋亡是一个在哺乳动物发育过程中清除有毒和/或无用细胞的过程。凋亡过程伴随着细胞和核的收缩和碎片化,以及染色体DNA降解为核小体单位。DNA断裂因子(DFF)是一个由40-kD(DFFB)和45-kD(DFFA)亚基组成的异二聚体蛋白质。DFFA是caspase-3的底物,在凋亡过程中触发DNA断裂。当DFFA被caspase-3切割时,DFF被激活。切割后的DFFA片段从DFFB中分离出来,DFFB是DFF的活性成分。研究发现,DFFB在凋亡过程中既能触发DNA断裂,又能引发染色质收缩。对于这个基因,已经发现了两种可选择剪接的转录变体,编码不同的等位基因。[由RefSeq提供,2008年7月]
Related ID:
NCBI:1676
ENSEMBL:ENSG00000160049
HGNC:2772
UNIPROT:O00273
OMIM:601882
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
1676
2
6
16008 bp
36.52
22
--
2
18
DFFA Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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No data available
* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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