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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
小鼠
Rpgr - retinitis pigmentosa GTPase regulator
Alias:
Rd9
Rp3h
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能激活鸟苷酸交换因子活性。参与鞭毛内的细胞内运输。在细胞对光刺激的响应中起上游或内部作用;参与眼睛形态发生和视觉感知。位于几个细胞组件中,包括鞭毛基体;光感受器远侧连接鞭毛;和精子鞭毛。在几个结构中表达,包括泌尿生殖系统;神经系统;和感觉器官。用于研究X-连锁圆锥形圆锥形营养不良1和视网膜色素变性3。这个基因的人类同源物与X-连锁黄斑变性;X-连锁圆锥形圆锥形营养不良1;X-连锁视网膜色素变性;和呼吸道感染相关的视网膜色素变性有关。与人类RPGR(视网膜色素变性GTPase调节剂)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:19893
ENSEMBL:ENSMUSG00000031174
UNIPROT:Q9R0X5
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
19893
6
18
58580 bp
111.80
11
24
Rpgr Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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References Literature
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IF
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