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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
CASQ1 - Calsequestrin 1
Alias:
CASQ
CSQ1
PDIB1
VMCQA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码钙调蛋白家族的骨骼肌特异性成员。钙调蛋白在心脏和骨骼肌细胞中作为肌质网钙感应器发挥作用。这种蛋白质,也称为钙调素,在骨骼肌线粒体中作为钙调节剂发挥作用。这种蛋白质在杜氏型肌营养不良症和贝克尔型肌营养不良症患者中缺失。[RefSeq,2013年6月提供]
Related ID:
NCBI:844
ENSEMBL:ENSG00000143318
HGNC:1512
UNIPROT:P31415
OMIM:114250
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
844
1
11
11312 bp
45.16
232
2
6
11
CASQ1 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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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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