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中文人类
CAPN3 - Calpain 3
Alias:
p94
CANP3
LGMD2
nCL-1
CANPL3
LGMD2A
LGMDD4
LGMDR1
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钙蛋白酶，一种由大和小亚基组成的异源二聚体，是一种主要的胞内蛋白酶，但其功能尚未完全明确。该基因编码肌钙蛋白酶大亚基家族的一种肌肉特异性成员，特异性地结合到肌联蛋白上。该基因的突变与2A型四肢带肌营养不良有关。替代启动子和替代剪接导致多个转录变异体，编码不同的异构体，有些变异体在全身广泛表达。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CAPN3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
