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中文人类
PIGW - Phosphatidylinositol Glycan Anchor Biosynthesis Class W
Alias:
Gwt1
HPMRS5
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这个基因编码的蛋白质是一种肌醇酰基转移酶，它使磷酸肌醇的肌醇环酰基化。这发生在内质网上，是糖基磷酯肌醇（GPI）生物合成的步骤之一，将许多细胞表面蛋白质锚定到膜上。这个基因的缺陷是引起年龄依赖的癫痫性脑病West综合征以及表现出高磷酸脂酸沉积和认知障碍（HPMRS5）综合征的原因。[由RefSeq，2017年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PIGW 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
