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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
大鼠
Pafah1b1 - platelet-activating factor acetylhydrolase 1b, regulatory subunit 1
Alias:
LIS1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
使动力蛋白中间链结合活性正常。参与几个过程,包括中心体的定位建立;神经元的产生;以及神经元突起发育的负调控。位于几个细胞组件中,包括生长锥的中心区域;神经元细胞体;和核膜。是1-烷基-2-乙酰甘油磷酸胆碱酯酶复合物和动力蛋白复合物的一部分。视觉癫痫的生物标志物。这个基因的人类同源物与无脑畸形和1型无脑畸形有关。这个基因的同源物与人类PAFAH1B1(血小板激活因子乙酰水解酶1b调节亚基1)相同。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:83572
ENSEMBL:ENSRNOG00000002755
UNIPROT:P63004
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
83572
3
11
58767 bp
46.67
9
9
Pafah1b1 Genetics information (-)
mRatBN7.2
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
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