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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
RGS9BP - Regulator Of G Protein Signaling 9 Binding Protein
Alias:
R9AP
RGS9
PERRS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质在光转导中作为G蛋白偶联受体信号的调节因子发挥作用。在牛和小鼠中的研究表明,这个基因仅在视网膜中表达,并定位在棒状外层膜上。这个蛋白质与异四聚体复合物相关联,特别与G蛋白信号调节子9相互作用,并似乎作为其他主要可溶性相互作用伙伴的膜锚定作用。这个基因的突变与延长电视网膜反应抑制(PERRS),也称为慢视症相关。[RefSeq,2010年3月提供]
Related ID:
NCBI:388531
ENSEMBL:ENSG00000186326
HGNC:30304
UNIPROT:Q6ZS82
OMIM:607814
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
388531
1
1
2453 bp
25.15
155
3
3
2
RGS9BP Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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