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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
WHAMM - WASP Homolog Associated With Actin, Golgi Membranes And Microtubules
Alias:
WHDC1
WHAMM1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个在肌动蛋白核粒化、高尔基膜关联和微管结合中起作用的蛋白质。该编码蛋白是一个促进核粒化的因子,可以调节肌动蛋白相关蛋白2/3复合物。激活的复合物通过结合现有的肌动蛋白丝来启动新的肌动蛋白丝的生长。该编码蛋白还在从内质网到高尔基复合物的运输调控以及保持高尔基复合物靠近中心体中发挥作用。这个基因的四个假基因存在于15号染色体与这个基因相同的一条臂上。[RefSeq,2013年8月提供]
Related ID:
NCBI:123720
ENSEMBL:ENSG00000156232
HGNC:30493
UNIPROT:Q8TF30
OMIM:612393
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
123720
6
10
26481 bp
90.92
53
--
5
7
WHAMM 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
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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