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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
ATP5F1A - ATP Synthase F1 Subunit Alpha
Alias:
OMR
ORM
ATPM
MOM2
ATP5A
hATP1
ATP5A1
MC5DN4
ATP5AL2
COXPD22
HEL-S-123m
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码线粒体ATP合酶的一个亚基。线粒体ATP合酶在氧化磷酸化过程中,利用质子在内膜上的电化学梯度催化ATP合成。ATP合酶由两个连接的多亚基复合体组成:可溶的催化核心F1和跨膜成分Fo,包括质子通道。线粒体ATP合酶的催化部分由5个不同的亚基(α,β,γ,δ和ε)组成,其组成比例为3个α,3个β,以及其他3个中的单个代表。质子通道由三个主要亚基(a,b,c)组成。这个基因编码催化核心的α亚基。已经识别出了编码不同亚型的可变剪接转录变异体。这个基因的假基因位于染色体9,2和16上。[RefSeq,2012年3月提供]
Related ID:
NCBI:498
ENSEMBL:ENSG00000152234
HGNC:823
UNIPROT:P25705
OMIM:164360
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
498
5
12
23980 bp
59.75
163
5
5
25
ATP5F1A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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