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中文人类
USH2A - Usherin
Alias:
US2
RP39
USH2
dJ1111A8.1
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这个基因编码一个包含Lamina EGF模序、Pentaxin结构域和许多纤连蛋白类型III模序的蛋白质。该蛋白质存在于基底膜中，可能在内耳和视网膜的发育和稳态中具有重要意义。这个基因中的突变与Usher综合症IIa型和视网膜色素变性有关。已经发现这个基因的多个转录变异体编码不同的异构体。[由RefSeq提供，2008年12月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
USH2A 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
