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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
ZBTB20 - Zinc Finger And BTB Domain Containing 20
Alias:
HOF
DPZF
PRIMS
ODA-8S
ZNF288
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因最初被命名为树突状细胞来源的BTB/POZ指环(DPZF),属于转录因子家族,具有N端的BTB/POZ结构域和C端的DNA结合锌指结构域。BTB/POZ结构域是一个约120个氨基酸的疏水区域,可调节与其他含有BTB/POZ结构域的蛋白质结合。这个基因作为转录抑制因子,参与许多过程,包括神经发生、血糖稳态和出生后生长。这个基因的突变与Primrose综合征以及3q13.31微缺失综合征有关。可变剪接导致多个转录变异体,编码不同的异构体。[RefSeq,2017年2月提供]
Related ID:
NCBI:26137
ENSEMBL:ENSG00000181722
HGNC:13503
UNIPROT:Q9HC78
OMIM:606025
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
26137
17
12
832789 bp
81.08
203
1
10
13
ZBTB20 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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