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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
PCK1 - Phosphoenolpyruvate Carboxykinase 1
Alias:
PCKDC
PEPCK1
PEPCKC
PEPCK-C
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是调节糖异生作用的主要调控点。这个基因编码的胞质酶,与GTP一起,催化氧化络酸盐形成磷酸烯醇丙酮酸,同时释放二氧化碳和GDP。这个基因的表达受到胰岛素、糖皮质激素、胰高血糖素、cAMP和饮食的调节。这个基因的缺陷是导致胞质磷酸烯醇丙酮酸激酶缺乏的原因。编码的蛋白质的线粒体同功酶也被表征。[由RefSeq,2008年7月提供]
Related ID:
NCBI:5105
ENSEMBL:ENSG00000124253
HGNC:8724
UNIPROT:P35558
OMIM:614168
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5105
2
10
7012 bp
69.19
215
2
9
18
PCK1 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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