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中文人类
GGCX - Gamma-glutamyl Carboxylase
Alias:
VKCFD1
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这个基因编码一个粗糙内质网的整体膜蛋白，将维生素K依赖蛋白的谷氨酸残基羧化成γ羧基谷氨酸，这是一种对其活性必需的修饰。维生素K依赖蛋白底物具有与酶结合的前肽，二氧化碳、二氧化物和还原型维生素K作为共底物发挥作用。维生素K依赖蛋白影响许多生理过程，包括血液凝固、预防血管钙化和平炎症。这个基因的等位基因变异与类弹性假黄瘤病相关，伴有多种凝血因子缺乏。可变剪接导致多个转录变异体。[RefSeq，2015年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GGCX Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
