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中文人类
CDH23 - Cadherin Related 23
Alias:
PITA5
USH1D
CDHR23
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这个基因是钙粘附蛋白超家族的成员，其基因编码依赖于钙的细胞间粘附糖蛋白。编码的蛋白质被认为与纤毛组织和毛发束形成有关。该基因位于包含人类耳聋位点DFNB12和USH1D的区域。Usher综合症1D和非综合征性常染色体隐性耳聋DFNB12是由这个粘附蛋白样基因的等位基因突变引起的。这个基因的上调也可能与乳腺癌有关。已经描述了编码不同异型体的可变剪接变体。[由RefSeq提供，2013年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CDH23 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
