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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
CAPNS1 - Calpain Small Subunit 1
Alias:
CANP
CDPS
CSS1
CANPS
CAPN4
CALPAIN4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是钙蛋白酶小亚基家族的成员。钙蛋白酶是广泛分布于哺乳动物细胞中的钙依赖性半胱氨酸蛋白酶。钙蛋白酶作为异源二聚体存在,包括特定的大型催化亚基(钙蛋白酶I的亚基1和钙蛋白酶II的亚基2)和由这个基因编码的常见小型调控亚基。这个编码的蛋白质对两种钙蛋白酶异源二聚体的稳定性和功能都是必需的,它们的蛋白水解活性影响各种细胞功能,包括凋亡、增殖、迁移、粘附和自噬。钙蛋白酶与神经退行性疾病过程有关,如肌营养不良。这个基因的一个假基因已经在染色体1上定义。选择性剪接导致多个转录变异体。[RefSeq,2014年10月提供]
Related ID:
NCBI:826
ENSEMBL:ENSG00000126247
HGNC:1481
UNIPROT:P04632
OMIM:114170
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
826
7
11
10288 bp
28.32
15
--
7
13
CAPNS1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Type
Name
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Status
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Link
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References Literature
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