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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
FHL1 - Four And A Half LIM Domains 1
Alias:
KYOT
SLIM
FCMSU
FHL-1
FHL1A
FHL1B
FLH1A
SLIM1
XMPMA
RBMX1A
RBMX1B
SLIM-1
SLIMMER
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个四分之一LIM仅蛋白家族的成员。家庭成员包含两个高度保守的、串联排列的锌指结构域,每个锌指中有四个高度保守的胱氨酸与锌原子结合。这些家庭成员的表达以细胞和组织特异性的方式发生,这些蛋白质涉及许多细胞过程。在这个基因中发现的突变与Emery-Dreifuss肌营养不良患者有关。已经描述了多种交替剪接的转录变异体,它们编码不同的蛋白质异构体。[由RefSeq提供,2009年11月]
Related ID:
NCBI:2273
ENSEMBL:ENSG00000022267
HGNC:3702
UNIPROT:Q13642
OMIM:300163
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2273
21
6
64658 bp
36.26
406
9
5
27
FHL1 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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