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中文人类
PCDH15 - Protocadherin Related 15
Alias:
USH1F
CDHR15
DFNB23
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这个基因是钙粘蛋白超家族的成员之一。家族成员编码整合膜蛋白，调节钙依赖的细胞间粘附。它在维持正常的视网膜和耳蜗功能中扮演着关键角色。这个基因的突变导致听力损失和Usher综合症1F型（USH1F）。在小鼠正文中已经观察到了广泛的替代剪接，产生了多种异构体。推测在人中也存在类似的替代剪接转录本，并且可能还存在其他变异。[由RefSeq，2008年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PCDH15 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
