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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
ZBTB18 - Zinc Finger And BTB Domain Containing 18
Alias:
RP58
MRD22
TAZ-1
ZNF238
C2H2-171
DEL1Q42Q44
DEL1Q43Q44
C1DELq42q44
C1DELq43q44
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个C2H2型锌指蛋白,作为参与神经元发育的基因的转录抑制子。编码的蛋白质识别特定的序列基元,并招募染色质成分以定位目标基因。可选的剪接导致多个转录变异体。[由RefSeq提供,2013年5月]
Related ID:
NCBI:10472
ENSEMBL:ENSG00000179456
HGNC:13030
UNIPROT:Q99592
OMIM:608433
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10472
9
2
8986 bp
58.35
189
1
5
12
ZBTB18 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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