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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
CAPN11 - Calpain 11
Alias:
calpain11
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
钙蛋白酶构成一个细胞内钙依赖性半胱氨酸蛋白酶家族。这个超级家族有八个成员。它们由一个可变的80kDa亚基和一个不变的30kDa亚基组成。这种钙蛋白酶蛋白似乎具有蛋白酶活性和钙结合能力。一种类似的鼠蛋白可能在精子发生和减数分裂期间钙依赖性信号转导事件的调节中起到功能作用。[由RefSeq,2008年12月提供]
Related ID:
NCBI:11131
ENSEMBL:ENSG00000137225
HGNC:1478
UNIPROT:Q9UMQ6
OMIM:604822
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11131
6
23
25582 bp
84.42
33
--
5
4
CAPN11 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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Cell-specific RNA expression
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Name
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References Literature
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