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中文人类
PDHB - Pyruvate Dehydrogenase E1 Subunit Beta
Alias:
PDHBD
PHE1B
E1beta
PDHE1B
PDHE1-B
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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，它催化丙酮酸完全转化为乙酰辅酶A和二氧化碳，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拷贝组成：丙酮酸脱氢酶（E1）、二氢脂酰氨基酰转移酶（E2）和脂酰氨基酰脱氢酶（E3）。E1酶是一种由两个α和两个β亚基组成的异四聚体。这个基因编码E1β亚基。这个基因的突变与丙酮酸脱氢酶E1-β缺乏症有关。已经发现了这个基因的替代剪接转录变异体。[RefSeq，2012年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PDHB 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
