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中文人类
DIAPH1 - Diaphanous Related Formin 1
Alias:
DIA1
DRF1
DFNA1
LFHL1
SCBMS
hDIA1
mDia1
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这个基因是果蝇透明基因的同源基因，已被证明与常染色体显性、完全外显、非综合征性感觉神经性进行性低频听力损失有关。肌动蛋白聚合涉及已知在果蝇和小鼠中与透明蛋白相互作用的蛋白质。因此，有推测这个基因可能在调节内耳毛细胞中的肌动蛋白聚合中起作用。已发现这个基因的不同剪接转录变异体，它们编码不同的异构体。[RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DIAPH1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
