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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
PFKFB1 - 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
Alias:
F6PK
HL2K
PFRX
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个双功能6-磷酸果糖-2-激酶:果糖-2,6-二磷酸酶酶家族的成员。这个酶形成一种催化合成和降解果糖-2,6-二磷酸酸使用独立催化结构域的同二聚体。果糖-2,6-二磷酸酸是糖酵解途径的激活剂和糖异生途径的抑制剂。因此,通过这个酶的活性调节果糖-2,6-二磷酸酸的水平被认为可以调节葡萄糖的稳态。已经发现了这个基因的多种可变剪接转录变异体。[由RefSeq,2012年11月提供]
Related ID:
NCBI:5207
ENSEMBL:ENSG00000158571
HGNC:8872
UNIPROT:P16118
OMIM:311790
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5207
9
14
65829 bp
54.68
14
--
4
7
PFKFB1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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