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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
PFKFB4 - 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是四种调节糖酵解副产物2,6-二磷酸果糖(F2,6BP)浓度的双功能激酶/磷酸酶之一。该编码蛋白质在癌细胞中高度表达,并在缺氧时被诱导。该蛋白质在缺氧条件下对癌细胞生存是必不可少的,因为它在细胞无法产生大量F2,6BP和ATP时增加了F2,6BP和ATP的量。这一发现表明,该蛋白质可能成为癌细胞中的破坏的好靶点,从而威胁其生存。已发现该基因编码不同异构体的几种转录变异体。[RefSeq,2015年11月提供]
Related ID:
NCBI:5210
ENSEMBL:ENSG00000114268
HGNC:8875
UNIPROT:Q16877
OMIM:605320
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
5210
17
14
45453 bp
54.04
25
--
6
7
PFKFB4 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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