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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
CSRP3 - Cysteine And Glycine Rich Protein 3
Alias:
CLP
MLP
CRP3
LMO4
CMD1M
CMH12
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个CSRP家族成员,该家族属于LIM结构域蛋白,可能涉及对发展和细胞分化至关重要的调控过程。这个蛋白质中的LIM/双锌指结构存在于一组具有关键功能的蛋白质中,这些蛋白质在基因调控、细胞生长和体细胞分化中发挥作用。认为这个基因的突变可能导致人类可遗传的肥厚性心肌病(HCM)和扩张性心肌病(DCM)。已经发现这个基因有不同的可变剪接转录本,它们具有不同的5'UTR,但编码相同的蛋白质。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8048
ENSEMBL:ENSG00000129170
HGNC:2472
UNIPROT:P50461
OMIM:600824
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8048
2
6
19954 bp
20.97
387
4
6
14
CSRP3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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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
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Type
Name
MGI
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CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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