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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
DDIT3 - DNA Damage Inducible Transcript 3
Alias:
CHOP
CEBPZ
CHOP10
CHOP-10
GADD153
AltDDIT3
C/EBPzeta
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
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Related Drugs
References Literature
这个基因编码一个CCAAT/增强子结合蛋白(C/EBP)家族的转录因子成员。该蛋白作为显性负抑制因子,通过与其他C/EBP成员如C/EBP和LAP(肝脏激活蛋白)形成异二聚体,防止它们的DNA结合活性。该蛋白与脂肪生成和红细胞生成有关,由内质网应激激活,并促进凋亡。这个基因与染色体16上的FUS或染色体22上的EWSR1融合,通过易位产生嵌合蛋白,形成粘液样脂肪肉瘤或Ewing肉瘤。已经识别出多种可变剪接转录变异体,编码具有不同长度的两种异构体。[由RefSeq,2010年8月提供]
Related ID:
NCBI:1649
ENSEMBL:ENSG00000175197
HGNC:2726
UNIPROT:P0DPQ6
OMIM:126337
Basic Information
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MW (kDa)
Mutations
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1649
8
4
3930 bp
19.18
8
1
10
22
DDIT3 Genetics information (-)
GRCh38
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* This data comes from NCBI.
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