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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
CCDC8 - Coiled-coil Domain Containing 8
Alias:
3M3
p90
PPP1R20
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个包含卷曲螺旋结构域的蛋白质。编码的蛋白质作为p53在DNA损伤后调节细胞凋亡所需的辅因子,并可能通过与细胞骨架适配器蛋白obscurin-like 1相互作用,在生长中发挥作用。这个基因的突变是3M综合征-3(3M3)的病因。[由RefSeq,2011年12月提供]
Related ID:
NCBI:83987
ENSEMBL:ENSG00000169515
HGNC:25367
UNIPROT:Q9H0W5
OMIM:614145
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
83987
1
1
3236 bp
59.37
161
2
6
12
CCDC8 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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