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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
SYNC - Syncoilin, Intermediate Filament Protein
Alias:
SYNC1
SYNCOILIN
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码中间丝家族的一个成员,该家族包含一个N末端头部域,然后是一个中心卷曲螺旋区域和一个短C末端尾部。该蛋白质在骨骼肌和心肌中高度表达。该蛋白质将肌营养不良相关蛋白复合物(DAPC)连接到肌肉中的desmin纤维,并可能在有条纹肌肉中具有结构作用。已经发现了这个基因的多个转录变体,编码不同的等位基因。[由RefSeq提供,2009年6月]
Related ID:
NCBI:81493
ENSEMBL:ENSG00000162520
HGNC:28897
UNIPROT:Q9H7C4
OMIM:611750
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
81493
8
5
23688 bp
55.30
24
--
4
6
SYNC 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
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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