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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
Nphp3 - nephronophthisis 3 (adolescent)
Alias:
pcy
C230078J01
3632410F03Rik
D330020E01Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
参与多个过程,包括纤毛组装;左右对称性的确定;以及维持动物器官特征。在多个过程的上游或内部发挥作用,包括细胞外基质组织;非运动纤毛组装;以及蛋白质结合活性的正向调节。位于纤毛基部和纤毛反转子腔室。在胚胎中表达。用于研究常染色体显性多囊肾疾病和肾囊性肾病3。该基因的人类同源物涉及Meckel综合症7;肾囊性肾病;肾囊性肾病3;和肾肝胰腺发育不良。与人类NPHP3(肾囊性肾病3)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:74025
ENSEMBL:ENSMUSG00000032558
UNIPROT:Q7TNH6
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
74025
2
27
41268 bp
150.29
6
5
Nphp3 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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