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中文人类
PIGV - Phosphatidylinositol Glycan Anchor Biosynthesis Class V
Alias:
PIG-V
HPMRS1
GPI-MT-II
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这个基因编码一种甘露糖转移酶酶，参与甘露糖磷脂酰肌醇（GPI）的生物合成。GPI是一种复杂的糖脂，作为许多蛋白质的膜锚定物，并在包括蛋白质分类和信号转导在内的多种细胞过程中发挥作用。编码的蛋白质定位在内质网，并将第二个甘露糖转移到GPI后链。这个基因的突变与高磷酸酶认知障碍综合症有关。这个基因观察到了可变剪接转录变体。[由RefSeq提供，2011年2月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PIGV 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
