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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
PXN - Paxillin
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种细胞骨架蛋白,参与细胞粘附到细胞外基质(粘附焦点)处的肌动蛋白膜附着。这个基因的不同剪接转录变异体已经描述过,这些变异体具有不同的表达模式,以及不同的生物化学和生理特性(PMID:9054445)。[RefSeq,2011年8月提供]
Related ID:
NCBI:5829
ENSEMBL:ENSG00000089159
HGNC:9718
UNIPROT:P49023
OMIM:602505
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5829
37
15
55284 bp
64.50
35
--
4
42
PXN 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
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References Literature
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