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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
Efhc1 - EF-hand domain (C-terminal) containing 1
Alias:
mRib72-1
myoclonin1
1700029F22Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有C端结合活性。预测参与几个过程,包括大脑皮质细胞迁移;依赖纤毛的细胞运动;和有丝分裂纺锤体组织。位于轴纤毛和神经元细胞体中。在几个结构中表达,包括大脑;上皮;未来的后脑顶板;肺;和脊髓室层。用于研究青少年肌阵挛性癫痫。这个基因的人类同源物与青少年缺失性癫痫1和青少年肌阵挛性癫痫有关。与人类EFHC1(EF手结构域含有1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:71877
ENSEMBL:ENSMUSG00000041809
UNIPROT:Q9D9T8
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
71877
1
11
39290 bp
75.14
4
6
Efhc1 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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