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中文人类
USH1C - USH1 Protein Network Component Harmonin
Alias:
PDZ73
AIE-75
DFNB18
PDZ-45
PDZ-73
PDZD7C
DFNB18A
NY-CO-37
NY-CO-38
ush1cpst
PDZ-73/NY-CO-38
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这个基因编码一个支架蛋白，在Usher蛋白复合体的组装中发挥作用。该蛋白包含PDZ结构域，一个具有双核定位信号的螺旋卷区域和一个PEST降解序列。这个基因的缺陷是导致Usher综合症1C型和非综合征性感觉神经性耳聋常染色体隐性类型18的原因。已经发现这个基因有多个转录变异体，编码不同的异构体。[RefSeq，2009年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
USH1C 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
