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中文人类
ETFA - Electron Transfer Flavoprotein Subunit Alpha
Alias:
EMA
GA2
MADD
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ETFA参与催化线粒体脂肪酸β氧化的初始步骤。它在初级黄蛋白脱氢酶和膜结合的电子转移黄蛋白泛醌氧化还原酶之间穿梭电子。电子转移黄蛋白的缺陷与Ⅱ型谷氨酸尿有关，其中多种酰基CoA脱氢酶缺陷导致谷氨酸、乳酸、乙基马来酸、丁酸、异丁酸、2-甲基丁酸和异戊酸的大量排泄。已发现此基因的两个转录变异体，编码不同的异构体。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ETFA Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
