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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
CAPN13 - Calpain 13
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
钙激活中性蛋白酶(calpains)是一种非溶酶体的细胞内半胱氨酸蛋白酶,受钙离子调节。哺乳动物的calpains包括泛素存在的、胃特异性的和肌肉特异性的蛋白质。这些泛素存在的酶由具有不同大型催化亚基的异源二聚体组成,与一个共同的小型调节亚基相关。这个基因编码一个钙蛋白酶大型亚基家族的成员。[RefSeq,2012年6月提供]
Related ID:
NCBI:92291
ENSEMBL:ENSG00000162949
HGNC:16663
UNIPROT:Q6MZZ7
OMIM:610228
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
92291
7
23
84676 bp
76.70
31
--
3
5
CAPN13 Genetics information (-)
GRCh38
Sequence Homology
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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