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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
ENAH - ENAH Actin Regulator
Alias:
ENA
MENA
NDPP1
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Description
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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enabled/血管舒张素刺激磷酸化蛋白家族成员。这个基因家族的成员参与基于肌动蛋白的迁移。这个蛋白质参与调节肌动蛋白丝的组装,并调节细胞粘附和迁移。这个基因的交替剪接变体与某些组织的肿瘤侵袭性有关,这些变体可能作为预后标志物。这个基因的一个假基因位于染色体3上。[由RefSeq,2016年9月提供]
Related ID:
NCBI:55740
ENSEMBL:ENSG00000154380
HGNC:18271
UNIPROT:Q8N8S7
OMIM:609061
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55740
35
14
167050 bp
66.51
21
--
5
22
ENAH Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
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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
Alphabetical
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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