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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
Prph2 - peripherin 2
Alias:
RP7
Rd2
Rds
rds
AVMD
PRPH
Rd-2
AOFMD
Nmf193
Tspan22
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有蛋白质同二聚化活性。在几个过程的上游或内部发挥作用,包括与视觉感知相关的光刺激检测;光感受器细胞外段的组织;和蛋白质复合物寡聚化。位于光感受器外段。在眼睛;头部;视网膜;和视网膜外核层中表达。用于研究模式性黄斑变性1和视网膜色素变性7。这个基因的人类同源物涉及莱伯先天性无瞳症;眼睛退行性疾病(多种);和白色斑点眼底。与人类PRPH2(外围蛋白2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:19133
ENSEMBL:ENSMUSG00000023978
UNIPROT:P15499
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
19133
1
3
14456 bp
39.26
13
15
Prph2 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
Length(nt)
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* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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IF
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