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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
Cep290 - centrosomal protein 290
Alias:
Nphp6
b2b1454Clo
b2b1752Clo
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能够实现相同的蛋白质结合活性。参与纤毛组装;微管细胞骨架组织;和蛋白质运输。在几个过程的上游或内部发挥作用,包括动物器官发育;纤毛组装;和光感受器细胞维护。位于中心粒卫星和光感受器细胞纤毛中。是MKS复合物的一部分。用于研究Joubert综合征5;Leber先天性夜盲10;囊性肾病;和内脏异构现象。这个基因的人类同源物涉及Bardet-Biedl综合征14;Joubert综合征5;Leber先天性夜盲10;Meckel综合征4;和Senior-Loken综合征。与人类CEP290(中心粒蛋白290)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:216274
ENSEMBL:ENSMUSG00000019971
UNIPROT:Q6A078
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
216274
5
56
86118 bp
289.08
14
13
Cep290 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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References Literature
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IF
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