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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
PDK1 - Pyruvate Dehydrogenase Kinase 1
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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(PDH)是一种线粒体多酶复合物,催化丙酮酸的氧化脱羧,并且是调节哺乳动物碳水化合物燃料稳态的主要酶之一。酶活性通过磷酸化/去磷酸化循环进行调节。由特定的丙酮酸脱氢酶激酶(PDK)磷酸化的PDH会导致失活。已发现此基因的多个可变剪接转录变体。[由RefSeq提供,2013年6月]
Related ID:
NCBI:5163
ENSEMBL:ENSG00000152256
HGNC:8809
UNIPROT:Q15118
OMIM:602524
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5163
12
11
168940 bp
49.24
20
--
10
12
PDK1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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