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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
PDLIM3 - PDZ And LIM Domain 3
Alias:
ALP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质包含一个PDZ结构域和一个LIM结构域,表明它可能参与细胞骨架组装。有研究表明,该编码蛋白质能够结合α-actinin-2的谱系重复序列,并与α-actinin-2在骨骼肌Z线共定位。这个基因的替代剪接转录变异体已经观察到,可以编码多种异构体。这个基因的异常替代剪接可能在肌营养不良中起作用。[RefSeq,2012年4月提供]
Related ID:
NCBI:27295
ENSEMBL:ENSG00000154553
HGNC:20767
UNIPROT:Q53GG5
OMIM:605889
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
27295
6
8
34848 bp
39.23
367
--
3
7
PDLIM3 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
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Cell-specific RNA expression
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
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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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