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中文人类
RS1 - Retinoschisin 1
Alias:
RS
XLRS1
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这个基因编码一种在视网膜细胞组织中起关键作用的细胞外蛋白。编码的蛋白质在光感受器和双极细胞中组装并作为同源寡聚蛋白复合物分泌。这个基因的突变导致X连锁性视网膜脱离，这是一种常见的早期发病的黄斑变性，导致视网膜内层的分离和严重的视力丧失。[RefSeq，2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RS1 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
