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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
PLS1 - Plastin 1
Alias:
DFNA76
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
塑性蛋白是一类在真核生物进化中保守的肌动蛋白结合蛋白,并在高等真核生物的大多数组织中表达。在人类中,已经确定了两种普遍存在的塑性蛋白异构体(L和T)。这个基因编码的蛋白质是第三种独特的塑性蛋白异构体,它在小肠中特异地高表达。已经发现这个基因的替代剪接转录变体,5'UTR不同,但编码相同的蛋白质,这个基因的假基因在染色体11上发现。[RefSeq,2010年2月提供]
Related ID:
NCBI:5357
ENSEMBL:ENSG00000120756
HGNC:9090
UNIPROT:Q14651
OMIM:602734
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5357
16
16
117272 bp
70.25
74
2
5
9
PLS1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Name
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References Literature
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No Data Found!
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