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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
Fgd1 - FYVE, RhoGEF and PH domain containing 1
Alias:
ZFYVE3
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码Rho特异性的鸟苷酸交换因子家族的一员。Rho特异性的鸟苷酸交换因子催化GDP向GTP的交换,并激活作为信号传导中的分子开关的小GTP酶。这个蛋白质特异性地结合细胞分裂周期42,一种Rho(Ras同源)GTPase。在老鼠中的研究提示,这个蛋白质对骨骼矿化和调节肌动蛋白细胞骨架很重要。在人类中,这个基因的突变与面部畸形性发育异常有关,也称为Aarskog-Scott综合征。[RefSeq,2014年3月提供]
Related ID:
NCBI:14163
ENSEMBL:ENSMUSG00000025265
UNIPROT:P52734
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
14163
2
18
43542 bp
106.36
3
12
Fgd1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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