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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
Abhd12 - abhydrolase domain containing 12
Alias:
1500011G07Rik
6330583M11Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
酰基甘油脂酶活性;溶血磷脂酶活性;和棕榈酰-(蛋白质)水解酶活性。参与细胞脂质分解过程;蛋白质脱棕榈酰化;和炎症反应的调节。在成年行走行为的上游或内部发挥作用;磷脂酰丝氨酸分解过程;和对听觉刺激的反应。位于树突细胞质和内质网膜中。是膜的集成组件。AMPA谷氨酸受体复合物的组成部分。用于研究PHARC综合征。该基因的人类同源物与PHARC综合征有关。与人类ABHD12(含羟酰基酶结构域12,溶血磷脂酶)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:76192
ENSEMBL:ENSMUSG00000032046
UNIPROT:Q99LR1
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
76192
5
13
72293 bp
45.27
4
10
Abhd12 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
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