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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
PDLIM1 - PDZ And LIM Domain 1
Alias:
CLIM1
CLP36
CLP-36
hCLIM1
HEL-S-112
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个谜蛋白家族的成员。该蛋白质包含两个蛋白质相互作用结构域,一个位于氨基端端的PDZ结构域和一到三个位于羧基端端的LIM结构域。它是一种与细胞骨架相关的胞质蛋白质。该蛋白质可能作为适配器,将其他与LIM相互作用的蛋白质带到细胞骨架上。与这个基因相关的假基因位于染色体3、14和17上。[由RefSeq,2012年10月提供]
Related ID:
NCBI:9124
ENSEMBL:ENSG00000107438
HGNC:2067
UNIPROT:O00151
OMIM:605900
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9124
1
7
53432 bp
36.07
12
--
4
22
PDLIM1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Score
Mutations
No data available
Transcripts & Proteins
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Transcript
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Length(aa)
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
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References Literature
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