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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
CCDC22 - Coiled-coil Domain Containing 22
Alias:
JM1
RTSC2
CXorf37
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有螺旋-螺旋结构的蛋白质。编码的蛋白质通过与其他铜代谢Murr1结构域含有(COMMD)蛋白质相互作用,参与核因子kappa轻链激活B细胞增强子(NF-kB)的调节。已发现小鼠的同源蛋白质可以与copines结合,copines是依赖钙的、结合膜的蛋白质,可能参与钙信号传导。这个人类基因已被鉴定为一种新的X连锁智力障碍综合征候选基因。[RefSeq,2013年8月提供]
Related ID:
NCBI:28952
ENSEMBL:ENSG00000101997
HGNC:28909
UNIPROT:O60826
OMIM:300859
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
28952
2
17
15051 bp
70.76
130
2
3
13
CCDC22 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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Cell-specific RNA expression
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Name
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Status
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Link
No data available
References Literature
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No Data Found!
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