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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
CARD11 - Caspase Recruitment Domain Family Member 11
Alias:
PPBL
BENTA
BIMP3
IMD11
CARMA1
IMD11A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于膜相关鸟苷酸激酶(MAGUK)家族,这个家族的蛋白质作为分子支架,在质膜的特殊区域组装多蛋白复合物。这个蛋白质也是CARD蛋白质家族的成员,其特征是携带一个特异性的caspase相关招募结构域(CARD)。这个蛋白质具有与CARD14蛋白质相似的域结构。已经证明这两个蛋白质的CARD结构域都能特异性地与BCL10相互作用,BCL10是一种已知能作为细胞凋亡和NF-kappaB激活的正调节物的蛋白质。当在细胞中表达时,这个蛋白质能激活NF-kappaB并诱导BCL10的磷酸化。[RefSeq,2008年7月提供]
Related ID:
NCBI:84433
ENSEMBL:ENSG00000198286
HGNC:16393
UNIPROT:Q9BXL7
OMIM:607210
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84433
2
25
137726 bp
133.28
791
7
20
19
CARD11 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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