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中文人类
USH1G - USH1 Protein Network Component Sans
Alias:
SANS
ANKS4A
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这个基因编码一个含有三个ankyrin结构域，一个I类PDZ结合基序和一个sterile alpha基序的蛋白质。编码的蛋白质与harmonin相互作用，harmonin与Usher综合症1C型有关。这个蛋白质在听觉和视觉系统的发展和维护中发挥作用，并在内耳感觉细胞形成的毛束的凝聚中起作用。这个基因的突变与Usher综合症1G型（USH1G）有关。可变剪接导致多个转录变异体。[由RefSeq，2013年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
USH1G 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
