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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
Pafah1b1 - platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
Alias:
Lis1
Mdsh
LIS-1
Ms10u
Pafaha
MMS10-U
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有相同的蛋白质结合活性;微管结合活性;和磷酸蛋白结合活性。参与几个过程,包括皮质微管组织;平面极性的建立;和内耳发育。在几个过程的上游或内部发挥作用,包括细胞骨架组织;神经系统发育;和沿微管的运输。位于几个细胞组件中,包括中心体;核周质区域;和纤毛。是微管相关复合物的一部分。在几个结构中表达,包括消化系统;早期胎囊;生殖泌尿系统;神经系统;和感光器。用于研究Miller-Dieker脑回状畸形综合征和脑回状畸形。这个基因的人类同源物与脑回状畸形和脑回状畸形1有关。与人类PAFAH1B1(血小板激活因子乙酰水解酶1b调节亚单位1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:18472
ENSEMBL:ENSMUSG00000020745
UNIPROT:P63005
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
18472
1
11
50436 bp
46.67
9
43
Pafah1b1 Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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