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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
人类
AFG3L2 - AFG3 Like Matrix AAA Peptidase Subunit 2
Alias:
OPA12
SCA28
SPAX5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个定位于线粒体的蛋白质,与paraplegin有密切关系。paraplegin基因负责一种常染色体隐性遗传的遗传性痉挛性截瘫。这个基因是其他遗传性痉挛性截瘫或神经退行性疾病的候选基因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10939
ENSEMBL:ENSG00000141385
HGNC:315
UNIPROT:Q9Y4W6
OMIM:604581
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10939
2
17
48284 bp
88.58
388
13
7
25
AFG3L2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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