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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
COTL1 - Coactosin Like F-actin Binding Protein 1
Alias:
CLP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码众多调节肌动蛋白细胞骨架的肌动蛋白结合蛋白之一。这种蛋白质与F-肌动蛋白结合,并也与5-脂氧合酶相互作用,后者是白细胞三烯生物合成中的第一个定向酶。虽然这个基因已经报道定位到17号染色体上的Smith-Magenis综合征区域,但这个基因的最佳比对是在16号染色体上。Smith-Magenis综合征区域是两个相关假基因的位置。[由RefSeq,2008年7月提供]
Related ID:
NCBI:23406
ENSEMBL:ENSG00000103187
HGNC:18304
UNIPROT:Q14019
OMIM:606748
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23406
1
4
52483 bp
15.95
6
--
4
13
COTL1 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
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
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Related Drugs
Name
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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