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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
Ift172 - intraflagellar transport 172
Alias:
Slb
wim
avc1
4930553F24Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
参与平滑化信号通路。在几个过程的上游或内部发挥作用,包括动物器官发育;区域化;以及平滑化信号通路的调节。位于精子细胞质滴;精子中段;和精子主要部分。是纤毛内运输颗粒B的一部分。在几个结构中表达,包括大脑;内分泌腺;泌尿系统;嗅觉上皮;和气管。用于研究VACTERL关联;房室隔缺损;和视网膜变性。这个基因的人类同源物涉及Barret-Biel综合症20;视网膜色素变性71;和短肋胸腺发育不良10,有无多指。与人类IFT172(纤毛内运输172)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:67661
ENSEMBL:ENSMUSG00000038564
UNIPROT:Q6VH22
Basic Information
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Transcripts
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Length
MW (kDa)
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Reference
67661
1
48
37836 bp
197.55
8
11
Ift172 Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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