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中文人类
PDHA1 - Pyruvate Dehydrogenase E1 Subunit Alpha 1
Alias:
PDHA
PDHAD
PHE1A
E1alpha
PDHCE1A
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丙酮酸脱氢酶（PDH）复合体是一种核编码线粒体多酶复合体，催化丙酮酸完全转化为乙酰辅酶A和CO2，并提供糖酵解和三羧酸（TCA）循环之间的主要联系。PDH复合体由三个酶成分的多个副本组成：丙酮酸脱氢酶（E1）、二氢脂酰氨基转移酶（E2）和脂酰氨基脱氢酶（E3）。E1酶是两种α和两种β亚基的异源四聚体。这个基因编码含有E1活性部位的E1α1亚基，并在PDH复合体功能中起关键作用。这个基因的突变与丙酮酸脱氢酶E1-α缺陷和X-连锁Leigh综合征有关。已发现这个基因的不同剪接转录变异体编码不同的异构体。[RefSeq，2010年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PDHA1 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
