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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
Afg3l2 - AFG3 like matrix AAA peptidase subunit 2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有预测的金属内肽酶活性。参与几个过程,包括钙进入线粒体;线粒体钙离子内稳态;和蛋白水解。在几个过程的上游或内部发挥作用,包括线粒体组织;神经系统发育;和纠正反射。位于线粒体中。此基因的人类同源物与视神经萎缩12;痉挛性共济失调;痉挛性共济失调5;和脊髓小脑共济失调28型有关。与人类AFG3L2(AFG3样矩阵AAA肽基肽酶亚基2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:307350
ENSEMBL:ENSRNOG00000017965
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
307350
3
17
44843 bp
Unknown
7
1
Afg3l2 Genetics information (-)
mRatBN7.2
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
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