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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
GABPA - GA Binding Protein Transcription Factor Subunit Alpha
Alias:
NFT2
NRF2
NRF2A
E4TF1A
E4TF1-60
RCH04A07
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码三种GA结合蛋白转录因子亚基之一,作为DNA结合亚基发挥作用。由于这个亚基与编码核呼吸因子2基因的亚基具有相同身份,它可能涉及细胞色素氧化酶表达的激活和线粒体功能的核控制。这个亚基还与构成负责腺病毒E4基因表达的转录因子E4TF1的亚基具有相同身份。由于其染色体定位和与其他多肽形成异源二聚体的能力,这个基因可能在唐氏综合征表型中发挥作用。已经发现这个基因有两个编码相同蛋白质的转录变异体。[RefSeq,2010年10月提供]
Related ID:
NCBI:2551
ENSEMBL:ENSG00000154727
HGNC:4071
UNIPROT:Q06546
OMIM:600609
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2551
8
10
37489 bp
51.30
14
--
9
7
GABPA Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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Status
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Link
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References Literature
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