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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
PDPR - Pyruvate Dehydrogenase Phosphatase Regulatory Subunit
Alias:
PDP3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
丙酮酸脱氢酶复合物(PDC)催化丙酮酸的氧化脱羧反应,将糖酵解与三羧酸循环和脂肪酸合成联系起来。PDC的脱磷酸化和重新活化由丙酮酸脱氢酶磷酸酶(PDP)催化。二聚的PDP具有一个催化亚基和一个调节亚基。这个基因编码含有FAD的PDP调节亚基。编码的蛋白质降低PDP催化亚基对镁离子的敏感性。替代剪接产生多个转录变异体,编码不同的异构体。[RefSeq,2017年1月提供]
Related ID:
NCBI:55066
ENSEMBL:ENSG00000090857
HGNC:30264
UNIPROT:Q8NCN5
OMIM:617835
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55066
19
19
49802 bp
99.36
41
--
4
7
PDPR Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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