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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
GCK - Glucokinase
Alias:
GK
GLK
HK4
HHF3
HKIV
HXKP
LGLK
MODY2
PNDM1
FGQTL3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个糖酵解酶家族的蛋白质成员。糖酵解酶将葡萄糖磷酸化为葡萄糖-6-磷酸,这是大多数葡萄糖代谢途径的第一步。与其他形式的糖酵解酶不同,这个酶不被其产物葡萄糖-6-磷酸抑制,而是在葡萄糖丰富时保持活性。这个基因的多个启动子和可变剪接导致不同的蛋白质异构体在胰腺和肝脏中表现出组织特异性的表达。在胰腺中,这个酶在葡萄糖刺激的胰岛素分泌中发挥作用,而在肝脏中,这个酶对葡萄糖的摄取和转化为糖原很重要。改变酶活性的这个基因的突变与多种类型的糖尿病和高胰岛素性低血糖相关。[由RefSeq,2017年8月提供]
Related ID:
NCBI:2645
ENSEMBL:ENSG00000106633
HGNC:4195
UNIPROT:P35557
OMIM:138079
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2645
8
10
46227 bp
52.19
939
11
40
48
GCK 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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