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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
CALD1 - Caldesmon 1
Alias:
CDM
HCAD
LCAD
h-CD
H-CAD
L-CAD
NAG22
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种结合钙调素和肌动蛋白的蛋白质,在调节平滑肌和非肌肉收缩中起关键作用。这个蛋白质的保守结构域具有与Ca(2+)-钙调素、肌动蛋白、肌纤蛋白、肌球蛋白和磷脂结合的活性。这种蛋白质是肌动蛋白-肌纤蛋白激活的肌球蛋白MgATPase的有效抑制剂,并作为Ca(2+)依赖性抑制平滑肌收缩的媒介因子。这个基因的可变剪接导致多个转录变异体,编码不同的异构体。[RefSeq,2008年7月提供]
Related ID:
NCBI:800
ENSEMBL:ENSG00000122786
HGNC:1441
UNIPROT:Q05682
OMIM:114213
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
800
31
15
225263 bp
93.23
35
--
4
18
CALD1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
Mechanism
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Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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